Glossary

1,25-dihydroxyvitamin D

123I-meta-iodobenzylguanidine

2,5-hexanedione

In this technique, the proteins are separated in two dimensions (by isoelectric focusing and mass), and a pattern is achieved that places each of the 2000 proteins of a cell at a grid reference point. By reference to established databases, individual prot

In this technique, the proteins are separated in two dimensions (by isoelectric focusing and mass), and a pattern is achieved that places each of the 2000 proteins of a cell at a grid reference point. By reference to established databases, individual proteins can be identified as the product of genes that have been sequenced.

2-dimensional gel electrophoresis

A person's clock hour schedule of bedtime and arise time as well as nap behavior; may also include time and duration of sleep interruptions. See Sleep-Wake Cycle; Circadian Rhythm; Sleep Log.

3,4-Diaminopyridine

3-O-methyldopa

An enzyme that reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate.

5-hydroxyindoleacetic acid

5-hydroxytryptamine, ie, serotonin

serotonin transporter-linked polymorphic region

5-lipoxygenase

A potent neurotoxin.

A potent neurotoxin.

A widely variant autosomal recessive disorder of tetrahydrobiopterin metabolism resulting in reduced synthesis of biogenic amine neurotransmitters. Symptoms often include poor sucking, decreased spontaneous movements, floppiness, microcephaly, low birth weight, and early appearance of neurologic signs in the neonatal period. Variant forms of 6-pyruvoyltetrahydropterin synthase have been described in which the neurologic signs are either minor or absent. In these there are normal concentrations of homovanillic acid and 5-hydroxyindoleacetic acid in CSF, often normal EEGs, and none of the signs of abnormal serotonin and catecholamine metabolism. However, there has been a report of an atypical form of 6-pyruvoyltetrahydropterin synthetase deficiency progressing to give a central phenotype. Greatly decreased urinary biopterins and increased neopterins, as well as increased levels of phenylalanine, are seen in both forms.

agenesis of the corpus callosum

amino acid decarboxylase

American Association of Electromyography and Electrodiagnosis

adeno-associated virus

adenosine triphosphate-binding cassette

Over 80 related proteins involved in the transport of proteins, peptides, amino acids, inorganic ions, and certain drugs in both prokaryocytes and eukaryocytes. All ABC transporters possess significant sequence identity and a similar topology, consisting of a hydrophobic domain located in the membrane and two adenosine triphosphate-binding domains on the cytoplasmic surface of the membrane. The deduced protein structure of adrenoleukodystrophy gene shares unexpected homology to ABC transporter gene. They are also referred to as traffic adenosine triphosphatases, as they require ATP as an energy source.

Over 80 related proteins involved in the transport of proteins, peptides, amino acids, inorganic ions, and certain drugs in both prokaryocytes and eukaryocytes. All ABC transporters possess significant sequence identity and a similar topology, consisting of a hydrophobic domain located in the membrane and two adenosine triphosphate-binding domains on the cytoplasmic surface of the membrane. The deduced protein structure of adrenoleukodystrophy gene shares unexpected homology to ABC transporter gene. They are also referred to as traffic adenosine triphosphatases, as they require ATP as an energy source.

The result of the vocal cords being pulled apart, creating a weak, breathy voice.

auditory brainstem response

anterior carotid artery

Acquired disorder in computational ability.

A description of the blood film where the majority of red blood cells are acanthocytes (red blood cells with multiple spiny cytoplasmic projections).

A memory disorder in which information that is learned and retained normally over standard intervals (approximately 30 min) is forgotten at an abnormally rapid rate thereafter.

acetylcholine

acetylcholinesterase subunits of type H

acetylcholinesterase subunits of type T

acetylcholine receptor

Lack of normal pigmentation of the skin, cachectic pallor.

Having little or no coloration after treatment with histologic stain.

Having little or no coloration after treatment with histologic stain.

The total lack of color perception in which all the colors of the spectrum are seen as black, grey, or white.

The capacity of the bacillus, when stained with red carbol fuschin dye, to retain its red color when treated with acid.

1-(4-amino-2-methyl-5-pyrimidinyl)methyl-3-(2-chloroethyl)-3-nitrosourea

Viral infection by a member of the herpes virus group that causes a wide range of diseases, transmitted by sexual contact, body secretions, blood transfusions, or organ transplants. Those who are immunodeficient are particularly susceptible.

American College of Rheumatology/European Ligue Against Rheumatism

A congenital syndrome characterized by oxycephaly and brachysyndactyly of the hands, polydactyly of the feet, and mental retardation. Also known as Carpenter syndrome.

A very rare genetic disorder characterized by abnormalities of the craniofacial area, distinctive malformations of the fingers and toes, and additional physical abnormalities. Also known as Pfeiffer syndrome, this disorder is generally accepted to be the same disorder as Noack Syndrome (Acrocephalopolysyndactyly Type I). The Acrocephalosyndactyly disorders are a group of very rare genetic disorders characterized by premature closure of the cranial sutures between certain bones of the skull, causing the top of the head to appear abnormally pointed, and webbing or fusion of certain fingers and/or toes.

A condition in which there is coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), ptosis, and characteristic appearance of the ear (small pinna with a prominent crus). Syndactyly of digits two and three of the hand is variably present. Also known as Saethre-Chotzen syndrome.

A very rare genetic disorder characterized by abnormalities of the craniofacial area, distinctive malformations of the fingers and toes, and additional physical abnormalities. Also known as Pfeiffer syndrome, this disorder is generally accepted to be the same disorder as Noack Syndrome (Acrocephalopolysyndactyly Type I). The Acrocephalosyndactyly disorders are a group of very rare genetic disorders characterized by premature closure of the cranial sutures between certain bones of the skull, causing the top of the head to appear abnormally pointed, and webbing or fusion of certain fingers and/or toes.

A congenital abnormality of the skull in which the top of the head assumes a conical or pointed shape because of premature closing of the lambdoid and coronal sutures. Also known as acrocephaly.

acrocallosal syndrome

adrenocorticotropic hormone

A biomedical instrument for the measurement of body movement.

A biomedical instrument for the measurement of body movement.

A hypercoagulable state, usually caused by an inherited mutation in coagulation factor V, termed "factor V Leiden."

A focus of hyperirritability in a muscle of its fascia that is symptomatic with respect to pain; it causes a pattern of referred pain at rest and/or on motion that is specific for that muscle.

A focus of hyperirritability in a muscle of its fascia that is symptomatic with respect to pain; it causes a pattern of referred pain at rest and/or on motion that is specific for that muscle.

A term used in the phylogenetic and ontogenetic literature for the stage of sleep that is considered to be equivalent to REM sleep.

One of the two gonadal glycoproteins related to transforming growth factor-beta, and is important in embryonal development.

Acute muscle injury caused by sever alcoholic binges in alcoholics, leading to swollen painful muscles and rhabdomyolysis.

Generally used to describe an acute, severe, monophasic event following vaccination of viral infection by 6 to 24 days. The process is multifocal and demyelinating and may be hemorrhagic.

The period of time when plasma HIV RNA is detectable and antibody tests for HIV are negative.

Part of the spectrum of multiple sclerosis initially described by Marburg in 1906, which included examples of lesions with bands of preserved myelin and disrupted myelin.

The mononucleosis-like syndrome (eg, fever, malaise and fatigue, arthralgias, sore throat, diarrhea, weight loss, rash, headache, and lymphadenopathy) that usually develops 2 to 4 weeks after HIV exposure.

Aminoacylase 1

apparent diffusion coefficient

Clinical trials in which test medications are added to already present regimens.

Clinical trials in which test medications are added to already present regimens.

The result of the vocal cords' hyperadducting, creating a strained, choked voice.

acute disseminated encephalomyelitis

antidiuretic hormone

alkyl-dihydroxyacetonephosphate synthase

attention deficit hyperactivity disorder

adenosine 5'diphosphate

An ATP-binding cassette (ABC) transporter in the human peroxisome membrane. It is defective in X chromosome-linked adrenoleukodystrophy.

autoimmune encephalitis

Any mental disorder in which a disturbance of the affect is predominant (eg, major depression, bipolar affective disorder).

alpha-fetoprotein

silver-staining nucleolar organizer region

Failure to recognize environmental stimuli despite intact sensory function.

Failure to use grammatical rules, typified by producing mainly nouns and verbs, without modifying them according to their functions in sentences.

The inability to name isolated letters or numerals traced on the skin, usually on the palm, without viewing.

Acquired inability to write due to cognitive dysfunction.

Disturbance in calculation abilities resulting from a defect in the normal ability to write.

apnea hypopnea index

artificial intelligence

anterior inferior cerebellar artery

aminoimidazole-carboxamide ribotide

acute inflammatory demyelinating polyradiculoneuropathy

List of diseases defined by the Centers for Disease Control and Prevention that are associated with AIDS and used worldwide as a guideline for the AIDS diagnosis. The surveillance case definition of AIDS is an HIV-infected individual with a CD4+ T-cell count less than 200 cells/uL or an AIDS-defining condition regardless of the CD4+ T-cell count (eg, HIV-related encephalopathy, herpes simplex virus, CNS cytomegalovirus, cytomegalovirus retinitis with loss of vision, progressive multifocal leukoencephalopathy, extrapulmonary mycobacterium tuberculosis, extrapulmonary cryptococcosis, extrapulmonary coccidioidomycosis, extrapulmonary histoplasmosis, cerebral toxoplasmosis, primary CNS lymphoma, HIV-associated wasting syndrome).

Transmission of sound to the cochlea through air to the external and middle ears.

Inner sense of restlessness relieved by volitional movement of the leg.

Absence of, but more accurately the paucity of, spontaneous unconscious movements.

A genetic disorder that affects the liver, heart, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence is 1 in every 70,000 live births. Also known as Alagille syndrome.

A genetic disorder that resembles hypoparathyroidism (lowered levels of parathyroid hormone) but is caused by a lack of response to parathyroid hormone rather than a deficiency in the hormone itself. Also known as Albright hereditary osteodystrophy.

A genetic disorder that resembles hypoparathyroidism (lowered levels of parathyroid hormone) but is caused by a lack of response to parathyroid hormone rather than a deficiency in the hormone itself. Also known as Albright hereditary osteodystrophy.

A disorder of neurodevelopment due to prenatal exposure to alcohol. In this disorder, the growth retardation and facial characteristics of fetal alcohol syndrome are not present. The neurodevelopmental abnormalities most often include deficits in attention and learning.

Adrenoleukodystrophy protein

Adrenoleukodystrophy-related protein

Disturbance in calculation abilities resulting from a defect in the normal ability to read.

A rare inherited disorder of metabolism, characterized by urine that turns black when exposed to air. Another characteristic is the development of arthritis in adulthood. Also known as ochronosis or homogentisic acid oxidase deficiency.

One member of a pair or series of genes that occupies a specific location on a specific chromosome.

One member of a pair or series of genes that occupies a specific location on a specific chromosome.

(From allo, other, and dynia, tenderness) Pain due to a stimulus that does not normally provoke pain.

An alpha EEG wave or sequence of waves with a frequency of 8-13 Hz.

A brief superimposition of EEG alpha activity on sleep activities during a stage of sleep.

A brief superimposition of EEG alpha activity on sleep activities during a stage of sleep.

A brief superimposition of EEG alpha activity on sleep activities during a stage of sleep.

A brief superimposition of EEG alpha activity on sleep activities during a stage of sleep.

An EEG rhythm with a frequency of 8-13 Hz in human adults, which is most prominent over the parieto-occipital cortex when the eyes are closed. The rhythm is blocked by eye opening or other arousing stimuli. It is indicative of the awake state in most normal individuals. It is most consistent and predominant during relaxed wakefulness, particularly with reduction of visual input. The amplitude is variable, but typically is below 50 'V in the adult. The alpha rhythm of an individual usually slows by 0.5-1.5 Hz and becomes more diffuse during drowsiness. The frequency range also varies with age; it is slower in children and older age-groups relative to young and middle-aged adults.

An EEG rhythm with a frequency of 8-13 Hz in human adults, which is most prominent over the parieto-occipital cortex when the eyes are closed. The rhythm is blocked by eye opening or other arousing stimuli. It is indicative of the awake state in most normal individuals. It is most consistent and predominant during relaxed wakefulness, particularly with reduction of visual input. The amplitude is variable, but typically is below 50 'V in the adult. The alpha rhythm of an individual usually slows by 0.5-1.5 Hz and becomes more diffuse during drowsiness. The frequency range also varies with age; it is slower in children and older age-groups relative to young and middle-aged adults.

Sleep in which alpha activity occurs during most, if not all, sleep stages.

Sleep in which alpha activity occurs during slow wave sleep. Because alpha-delta sleep is rarely seen without alpha occurring in other sleep stages, the term alpha sleep is preferred.

A component of the dystroglycan complex that is involved in the pathogenesis of muscular dystrophies.

A rare autosomal recessive disorder of the enzyme responsible for oxidation of alpha-ketoglutarate to succinyl CoA in the Krebs cycle. The defect can occur in the E2 subunit, dihydrolipoyl transacylase (chromosome 14), causing initial hypotonia, motor delay, and acidosis followed by hypertonicity and choreoathetoid movements with variable seizures and hepatomegaly. More commonly a more severe disorder involving the alpha-ketoglutarate dehydrogenase E3 subunit, dihydrolipoyl dehydrogenase (chromosome 7), is effected. The E3 subunit is identical to that of pyruvate dehydrogenase and branched-chain alpha-ketoacid dehydrogenase, and its inactivation leads to more widespread derangements of both pyruvate and branched-chain amino acid metabolism.

Alpha-mannosidase deficiency linked to chromosome 19, causing lysosomal accumulation of manno-oligosaccharides in all tissues. Type 1 is more severe and occurs in the first year of life, with psychomotor and mental retardation, hypotonia, hepatosplenomegaly, coarse facies, dysostosis multiplex, frequent infections, and neural deafness. Type 2 is milder, with infant to adult onset, speech and hearing deficits appearing in adolescence, hypotonia, tremor, dysequilibrium, and mild to moderate mental retardation.

The process by which only the carboxyl carbon of a fatty acid is removed, shortening the chain by one carbon. Although still under debate, it is likely that this process takes place in peroxisomes.

amyotrophic lateral sclerosis-frontotemporal dementia

amyotrophic lateral sclerosis-parkinsonism dementia complex

axonal spheroids and pigmented glia

alanine aminotransferase

apparent life-threatening event

A test to detect perseveration, in which the patient must copy and extrapolate a line drawing with alternating shapes (eg, a triangle followed by a square).

acid maltase deficiency

Inflammation of the brain and its coverings by a parasitic protozoa.

Ammonia is derived mainly from proteins, amino acids, amines, and nucleic acid, mainly in the gastrointestinal tract, kidneys, muscles, brain, liver, and red blood cells. In catabolism muscular ammonia is in the foreground, and the purine nucleotide cycle in muscles and other tissues plays an important role. Two-thirds of the ammonia comes from the gut from precursors of glutamine and urea. Colon bacteria synthesize one-third to one-half of intestinal ammonia, and the rest comes from metabolic products and to some extent from the reabsorption of nutritional ammonia. Even in the absence of bacteria in the intestine, ammonia is released by enzymatic hydrolysis of urea. Gut-derived ammonia in the liver is converted largely to urea and to a lesser extent, glutamine. Ammonia that escapes the action of ammonia-utilizing enzymes in the liver or is released into the circulation from systemic metabolic processes is metabolized largely to glutamine in the extrahepatic organs: brain, skeletal muscles, heart, adipose tissue, and lungs. The gut takes up glutamine released by these organs where it is an energy source. Ultimately the nitrogen is excreted, mostly as urea.

adenosine monophosphate (adenylic acid) or adenosine-5-monophosphate

alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid

adenosine monophosphate (adenylic acid) deaminase

adenosine monophosphate (adenylic acid) deaminase

Drugs with sympathomimetic action that are available for over-the-counter sale.

Drugs with sympathomimetic action that are available for over-the-counter sale.

Constellation of psychiatric symptomatology associated with stimulant use.

neurologically impaired processing of music

antinuclear antibodies

Absence of pain in response to stimulation which would normally be painful.

Acquired inability in understanding and using numerical concepts, usually associated with left posterior parietal damage.

antineutrophil cytoplasmic autoantibodies

adult neuronal ceroid lipofuscinosis

Lack of energy.

A localized dilatation of a blood vessel; a ballooning out of arterial wall.

Excision of an aneurysm.

Repair of an aneurysm.

A procedure in which a catheter is introduced into the vessel, and intravenous or intra-arterial contrast is infused through the vessel, which will show the anatomy of vessels and any potential malformation, variation, stenosis etc.

Pink or red skin telangiectasia, papule, or small nodule that can undergo hyperkeratosis and tends to be diffuse in Fabry disease.

These are extradural lipomas; 95% are located in the spine and they are frequently associated with vascular malformations.

These are extradural lipomas; 95% are located in the spine and they are frequently associated with vascular malformations.

acute necrotizing hemorrhagic encephalopathy

Lack of feelings of pleasure.

Lack of sweating.

type 1 antineuronal nuclear antibodies

type 2 antineuronal nuclear antibodies

Impaired ability to name objects or retrieve words.

Loss of the sense of smell.

Unawareness of physical deficits, most often seen with lesions of the right parietal lobe. It may include denial of ownership of a limb.

A nonepileptic attack arising as a consequence of a sudden decrease in cerebral perfusion of oxygenated blood.

An epileptic seizure precipitated by an anoxic seizure.

deep brain stimulation of the anterior nucleus of the thalamus

Loss of access to memories of ongoing events.

Antibodies that react with MAG and are thought to cause neuropathy. They are usually monoclonal antibodies of the IgM type.

An antiphospholipid antibody that recognizes bovine cardiolipin in a molecular complex with beta2-glycoprotein I.

Conducting impulses in the opposite direction of normal.

Antibodies triggered by b-hemolytic group A streptococcus that cross-react with basal ganglia epitopes.

Autoantibodies directly against neutrophilic antigens. The myeloperoxidase ANCA stains leukocyte perinuclear cytoplasm diffusely and is associated with Churg-Strauss syndrome, whereas the proteinase 3 ANCA stains the cytoplasm diffusely and is associated with Wegener granulomatosis. The pathogenic role of these antibodies is not conclusively proven, but in vitro they are able to elicit neutrophil granule release, and their titers may correlate with disease activity.

Autoantibodies directly against neutrophilic antigens. The myeloperoxidase ANCA stains leukocyte perinuclear cytoplasm diffusely and is associated with Churg-Strauss syndrome, whereas the proteinase 3 ANCA stains the cytoplasm diffusely and is associated with Wegener granulomatosis. The pathogenic role of these antibodies is not conclusively proven, but in vitro they are able to elicit neutrophil granule release, and their titers may correlate with disease activity.

Autoantibodies directly against neutrophilic antigens. The myeloperoxidase ANCA stains leukocyte perinuclear cytoplasm diffusely and is associated with Churg-Strauss syndrome, whereas the proteinase 3 ANCA stains the cytoplasm diffusely and is associated with Wegener granulomatosis. The pathogenic role of these antibodies is not conclusively proven, but in vitro they are able to elicit neutrophil granule release, and their titers may correlate with disease activity.

A syndrome characterized by arterial or venous thrombosis, thrombocytopenia, recurrent fetal loss, livedo reticularis, and the presence of antiphospholipid antibodies.

A hypercoagulable state caused by inherited deficiency of antithrombin III.

A rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. The disorder is typically associated with premature closure of the fibrous joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdeveloped midfacial regions (midfacial hypoplasia), protruding eyes (proptosis), and other craniofacial abnormalities. Additional skeletal malformations are usually present, such as fusion of certain adjacent bones of the arms (e.g., radiohumeral or radioulnar synostosis); long, thin fingers and toes (arachnodactyly); and bowing of the thigh bones. In addition, certain joints may become permanently flexed or extended in fixed postures (joint contractures), resulting in restricted movements.

Bilateral infarction of the striate cortex leads to cortical blindness. Some cortically blind patients who do not recognize or will not admit that they cannot see have Anton syndrome.

afferent pupillary defect

Acrocephalosyndactyly with the second through fifth digits fused into one mass with a common nail, often accompanied by moderately severe acne vulgaris on the forearms. Also known as Apert syndrome.

Acrocephalosyndactyly with the second through fifth digits fused into one mass with a common nail, often accompanied by moderately severe acne vulgaris on the forearms. Also known as Apert syndrome.

Evaluation of physical status of a newborn that rates its hearing rate, respiratory effort, muscle tone, response stimulation, and skin color. A score between 8 and 10 indicates best condition.

Evaluation of physical status of a newborn that rates its hearing rate, respiratory effort, muscle tone, response stimulation, and skin color. A score between 8 and 10 indicates best condition.

Disturbance in calculation abilities resulting from a language defect.

A handwriting disorder consisting of impaired spelling or incorrect word production, not due to impaired motor control, sensory loss, educational experience, or failure to understand the task.

Articulatory speech disorder without aphasia.

antiphospholipid antibody

Cessation of airflow at the nostrils and mouth lasting at least 10 seconds. There are three types of apnea: obstructive, central, and mixed. Obstructive apnea is secondary to upper airway obstruction; central apnea is associated with a cessation of all respiratory movements; mixed apnea has both central and obstructive components.

The number of apneic episodes (obstructive, central, and mixed) per hour of sleep as determined during all-night polysomnography. Sometimes a separate obstructive apnea index or central apnea index is stated.

The number of apneic episodes (obstructive, central, and mixed) plus hypopneas per hour of sleep as determined by all-night polysomnography.

Cessation of airflow at the nostrils and mouth lasting at least 10 seconds. There are three types of apnea: obstructive, central, and mixed. Obstructive apnea is secondary to upper airway obstruction; central apnea is associated with a cessation of all respiratory movements; mixed apnea has both central and obstructive components.

apolipoprotein E epsilon

apolipoprotein E epsilon4

The protein component on lipoproteins.

(Greek, apo=away from, ptosis=fall) Single deletion of scattered cells by fragmentation into membrane-bound particles that are phagocytosed by other cells; believed to be due to programmed cell death.

Frightening signs identified by a caretaker, which can include apnea, cyanosis or pallor, altered muscle tone, choking, or gagging

Frightening signs identified by a caretaker, which can include apnea, cyanosis or pallor, altered muscle tone, choking, or gagging

Frightening signs identified by a caretaker, which can include apnea, cyanosis or pallor, altered muscle tone, choking, or gagging

Segmental ideomotor apraxia observed in difficulties in performing the movements to write letters and words.

Inability to perform familiar, learned purposeful movements in the absence of motor or sensory impairment.

Impaired handwriting due to poor production of required movement sequences or spatial configurations, not due to weakness, generalized incoordination, dystonia, sensory loss, linguistic disturbance, or failure to understand the task. The nondominant hand of most healthy people may be said to show apraxic agraphia when writing.

Communication disorder involving impaired modulation or comprehension of vocal tone.

activated partial thromboplastin time

aquaporin-4

autosomal recessive

cytarabine

The middle layer of meninges, bounded externally by the dura and containing the cerebrospinal fluid-filled subarachnoid space.

A condition of fibrous proliferation within the subarachnoid space leading to loculations of CSF, back pain, and sometimes spinal cord compression.

alcohol-related birth defect

Acronym for arthropod-borne viruses, which are members of a group of animal viruses that multiply in an arthropod and are transmitted to a vertebrate host.

Acronym for arthropod-borne viruses, which are members of a group of animal viruses that multiply in an arthropod and are transmitted to a vertebrate host.

A group of RNA-containing viruses with a rodent reservoir.

arginine

acetylcholine receptor-inducing activity

The clock time that an individual gets out of bed after the final awakening of the major sleep episode. Distinguished from final wake-up.

alcohol-related neurodevelopmental disorder

The auricular branch of the vagus nerve.

A parasomnia disorder presumed to be due to an abnormal arousal mechanism. Forced arousal from sleep can induce episodes. The "classical" arousal disorders are sleepwalking, sleep terrors, and confusional arousals.

A parasomnia disorder presumed to be due to an abnormal arousal mechanism. Forced arousal from sleep can induce episodes. The "classical" arousal disorders are sleepwalking, sleep terrors, and confusional arousals.

Absence of olfactory bulbs and olfactory cortex.

aging-related tau astrogliopathy

A genetic disorder that affects the liver, heart, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence is 1 in every 70,000 live births. Also known as Alagille syndrome.

The most common of the vascular malformations to cause symptoms. Most often they present as hemorrhage, but they may also present with seizure or focal deficit. They represent an aberrant connection between the arteriole and venous circulation with bypass of the capillary system.

The most common of the vascular malformations to cause symptoms. Most often they present as hemorrhage, but they may also present with seizure or focal deficit. They represent an aberrant connection between the arteriole and venous circulation with bypass of the capillary system.

Organism with an exoskeleton and paired, jointed legs, including insects, spiders, and ticks.

Organism with an exoskeleton and paired, jointed legs, including insects, spiders, and ticks.

Autosomal recessive mucopolysaccharidosis caused by arylsulfate beta deficiency, with dermatan sulfate excreted in the urine. Hurler-like symptoms are seen, with coarse facial features, dysotosis multiplex, short stature, corneal clouding, hepatosplenomegaly, hearing loss, and normal intelligence. Life span is dependent on extent of cardiomyopathy and valvular disease. Also known as mucopolysaccharidosis VI and arylsulfate beta deficiency.

argininosuccinic acid (or arylsulfatase A)

A disease causing necrosis of the spinal cord that spreads rostrally segment by segment.

American Sleep Disorders Association

Inflammation of the meninges not caused by culturable agents (bacteria, fungi).

acid sphingomyelinase deficiency

asparagine

aspartate

aspartoacylase

aspartate aminotransferase

Lapses of maintained postures, considered a form of negative myoclonus.

Seizure with asymmetric posturing usually originating in the supplementary motor area.

Ataxic

An autosomal recessive condition that causes progressive incoordination, dilated blood vessels of skin and conjunctiva, frequent sinus and pulmonary infections, and an increased risk of certain malignancies.

Writhing movements that blend continuously into a flowing stream of movement.

Epileptic attacks characterized by a sudden loss or diminution of muscle tone, which may be fragmentary or massive. Atonic seizures may be generalized or focal, but are usually seen in children with the Lennox-Gastaut syndrome. They must be differentiated from other seizure types that may cause sudden falls, such as myoclonic-astatic seizures, myoclonic seizures, and tonic seizures.

Epileptic attacks characterized by a sudden loss or diminution of muscle tone, which may be fragmentary or massive. Atonic seizures may be generalized or focal, but are usually seen in children with the Lennox-Gastaut syndrome. They must be differentiated from other seizure types that may cause sudden falls, such as myoclonic-astatic seizures, myoclonic seizures, and tonic seizures.

adenosine triphosphate (or adenosine triphosphatase)

P-type ATPase encoding antiphospholipid translocase

The state in which the normal rhythmical contractions of the cardiac atria are replaced by rapid irregular twitchings of the muscular wall, and the ventricles respond irregularly to the dysrhythmic bombardment from the atria.

Cogan syndrome presenting with ocular inflammation other than or in addition to interstitial keratitis, or with atypical audiovestibular symptoms.

Cogan syndrome presenting with ocular inflammation other than or in addition to interstitial keratitis, or with atypical audiovestibular symptoms.

area under the curve (concentration time)

Gastrointestinal (eg, dry mouth, indigestion, diarrhea, cramps, belching), cardiovascular (eg, palpitations), respiratory (eg, hyperventilation, sighing), and other symptoms of anxiety (eg, headaches, urinary frequency, sweating).

Signs and symptoms resulting from dysfunction in the parasympathetic and sympathetic nervous system.

Signs and symptoms resulting from dysfunction in the parasympathetic and sympathetic nervous system.

Genetically inherited nocturnal seizure disorder associated with mutations in subunits of the nicotinic acetylcholine receptor.

Anthrax vaccine adsorbed

arteriovenous malformation

arginine vasopressin

antivasospasm substance((+/-)-N,N'-propylenedinicontinamide; nicaraven)

A means of stating different types of information in a systematic manner by listing on several "axes," to ensure that important information is not overlooked by the statement of a single major diagnosis. The International Classification of Sleep Disorders utilizes a three-axial system: Axes A, B, and C.

The first level of the International Classification of Sleep Disorders axial system on which the sleep disorder diagnoses, modifiers, and associated code numbers are stated.

The second level of the International Classification of Sleep Disorders axial system on which the sleep-related procedures and procedure features, and associated code numbers, are stated.

The third level of the International Classification of Sleep Disorders axial system on which ICD nonsleep diagnoses and associated code numbers are stated.

Neuropathy due to axonal degeneration.

Injury to a peripheral nerve that produces complete interruption of the axon and myelin sheath while preserving the core connective tissue structure of the nerve.

aziridinylbenzoquinone

azidothymidine (Zidovudine)

benign angiopathy of the central nervous system

brainstem auditory evoked response

Brain-specific angiogenesis inhibitor

Disorientation to place and difficulty in revisualizing locations. Patients also have a gaze apraxia. Patients see things piecemeal; they lack the ability to direct a panoramic view. They lack coordination of eye and hand motions. They cannot look directly at a position or object on which they have been instructed to focus.

A rare syndrome of craniosynostosis, radial aplasia, delayed psychomotor development, and variable craniofacial, cardiac, renal, and skeletal defects. Also known as Baller-Gerold syndrome.

A rare demyelinating disease with lesions consisting of alternating bands of demyelinated and myelinated areas in concentric or lamellar configurations. It is felt to be a variant of multiple sclerosis or diffuse sclerosis, because transitional forms have been observed in both disorders.

A rare demyelinating disease with lesions consisting of alternating bands of demyelinated and myelinated areas in concentric or lamellar configurations. It is felt to be a variant of multiple sclerosis or diffuse sclerosis, because transitional forms have been observed in both disorders.

Specific interconnected gray masses deep in the cerebral hemispheres and in the upper brainstem involved in multiple functions, specifically motor coordination.

distortion of the cranial base that occurs secondary to collapse of the occipital bones and secondary upward curvature of the foramen magnum and elevation of the floor of the posterior fossa.

distortion of the cranial base that occurs secondary to collapse of the occipital bones and secondary upward curvature of the foramen magnum and elevation of the floor of the posterior fossa.

Migraine with aura consisting of any two or more of the following symptoms: visual symptoms in both the temporal and nasal fields of both eyes, dysarthria, vertigo, tinnitus, decreased hearing, double vision, ataxia, bilateral paresthesias, bilateral paresis, and decreased level of consciousness.

Migraine with aura consisting of any two or more of the following symptoms: visual symptoms in both the temporal and nasal fields of both eyes, dysarthria, vertigo, tinnitus, decreased hearing, double vision, ataxia, bilateral paresthesias, and decreased level of consciousness.

Blood-brain barrier

Bacille Calmette-Guerin

1,3-bis(2-chloroethyl)-1-nitrosourea(carmustine)

brain death/death by neurologic criteria

Beck Depression Index

brain-derived neurotrophic factor

An idiopathic localization-related epilepsy characterized by childhood onset and centrotemporal spikes on EEG.

Pediatric migraine equivalent characterized by sudden, brief attacks of vertigo.

Cortical premovement; potential precedes the movements.

A saccular aneurysm that is berry shaped

A beta EEG wave or sequence of waves with a frequency of greater than 13 Hz.

An EEG rhythm in the range of 13-35 Hz, when the predominant frequency, beta rhythm, is usually associated with alert wakefulness or vigilance and is accompanied by a high tonic EMG. The amplitude of beta rhythm is variable but usually is below 30 'V. This rhythm may be drug induced.

An EEG rhythm in the range of 13-35 Hz, when the predominant frequency, beta rhythm, is usually associated with alert wakefulness or vigilance and is accompanied by a high tonic EMG. The amplitude of beta rhythm is variable but usually is below 30 'V. This rhythm may be drug induced.

A very rare disorder of beta-mannosidase possibly localized to chromosome 4, resulting in lysosomal accumulation of mannodisaccharide in all tissues. Findings have included facial deformities, mental retardation, demyelinating peripheral neuropathy, recurrent infections, and onset from infancy to adulthood.

The usual pathway for degradation of fatty acids in which the chain is shortened by two carbons. Beta-oxidation occurs both in mitochondria and peroxisomes.

basic fibroblast growth factor

bilevel positive airway pressure

A condition in which the head is disproportionately wide. Brachycephaly can result from the premature fusion of the coronal sutures or from external deformation (most commonly prolonged lying on the back -- a positional deformity). The head flattens uniformly, causing a much wider and shorter head. Increased head height is also common in children with brachycephaly. Also known as brachycephaly.

benign infantile familial convulsions

The chip (GeneChipTM, Affymetrix Inc) is a piece of silica prepared through chemical and light processes to hold onto single strands of oligonucleotide probes. These can be bombarded with fluorescently tagged DNA or RNA from a patient or an organism, revealing genetic information.

Forming complex chemical compounds from simple substances in the body

An inherited disorder of organic acidemia that is characterized by neurologic and cutaneous symptoms, ketolactic acidosis, and hyperammonemia.

An inherited disorder of organic acidemia that is characterized by neurologic and cutaneous symptoms, ketolactic acidosis, and hyperammonemia.

Condition in which the palpebral aperture is abnormally small.

Drooping of the upper eyelid.

A focal dystonia of the eyelids resulting in involuntary eye closures that are disruptive and can cause functional blindness.

The electrical stimulation of the supraorbital nerve normally elicits two temporally separate responses of the orbicularis oculi.

The electrical stimulation of the supraorbital nerve normally elicits two temporally separate responses of the orbicularis oculi.

B-N-methylamino-L-alanine

boron neutron capture therapy

A form of oscillopsia occurring during ambulation and associated with vertical "bobbing" sensations of environmental movement, due to defective vertical vestibulo-ocular reflexes.

Transmission of sound to the cochlea through the skull.

benign partial epilepsy

A condition in which the head is disproportionately wide. Brachycephaly can result from the premature fusion of the coronal sutures or from external deformation (most commonly prolonged lying on the back -- a positional deformity). The head flattens uniformly, causing a much wider and shorter head. Increased head height is also common in children with brachycephaly. Also known as brachycephaly.

A condition in which the head is disproportionately wide. Brachycephaly can result from the premature fusion of the coronal sutures or from external deformation (most commonly prolonged lying on the back -- a positional deformity). The head flattens uniformly, causing a much wider and shorter head. Increased head height is also common in children with brachycephaly. Also known as brachycephaly.

Abnormal slowness of movement.

Slowness of thought processes.

Human death determined by demonstrating the permanent cessation of all clinical functions of the brain.

Episodes of apnea, cyanosis, and loss of consciousness in infants and toddlers, often related to a painful or upsetting stimulus.

Episodes of apnea, cyanosis, and loss of consciousness in infants and toddlers, often related to a painful or upsetting stimulus.

The neurologic picture produced by a transverse lesion of the right or left side of the spinal cord, including ipsilateral weakness and contralateral loss of superficial sensation.

brainstem auditory evoked response

Berardinelli-Seip congenital lipodystrophy type 2

Brain Tumor Cooperative Group

Brain Tumor Study Group

botulinum toxin

bromodeoxyuridine

Biological Weapons Convention

chromosome 15 open reading frame 2

cerebral amyloid angiopathy

coronary artery bypass graft.

cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

A family of cell-cell adhesion molecules that regulate morphogenesis in a variety of organs during development.

Conotruncal-anomaly-face syndrome

cytosine adenosine guanine

A list of 10 items from a single category (eg, items on a shopping list) are repeated by the examiner on five trials. Patients must recall the list immediately after every trial to derive a learning curve, then again 10 to 15 minutes after the fifth trial then again 10 to 15 minutes after the fifth trial for a spontaneous delayed recall score. Intrusive errors are recorded as well as accurate responses. A list of the 10 original items along with 10 similar false responses is read aloud to the patient, who must correctly identify the 10 original items and suppress false positive responses.

Pertaining to the corpus callosum, the largest fiber bundle that links the two hemispheres.

Inpaired ability to pantomime to command, imitate, and use actual objects with the left hand, with spared ability to perform these tasks with the right hand.

Surgical division of the corpus callosum.

cell adhesion molecule

Pathophysiological concept that explains benign paroxysmal positional vertigo by mobile particles within the semicircular canal, causing inappropriate endolymph flow after changes in head position.

chronic ataxic neuropathy with disialosyl antibodies

chronic ataxic neuropathy with ophthalmoplegia, M-protein, agglutination and disialosyl antibodies

chronic ataxic neuropathy, ophthalmoplegia, IgM paraprotein, cold agglutinins and disialosyl antibodies

The angle formed at the nasal or temporal junction of the upper and lower eyelids.

The angle formed at the nasal or temporal junction of the upper and lower eyelids.

continuous ambulatory peritoneal dialysis

Occult lesions of no clinical significance. They consist of dilated endothelial-lined capillaries interspersed by normal neural tissue.

Occult lesions of no clinical significance. They consist of dilated endothelial-lined capillaries interspersed by normal neural tissue.

A clinical assessment score for patients with Parkinson disease.

An autosomal recessive disorder of the urea cycle occurring in the mitochondrial matrix. Onset is seen between 24 and 72 hours of age with hyperammonemia, low citrulline levels, decreased orotic acid, hypotonia, vomiting, hyperventilation, and lethargy progressing to coma and seizures. Later and milder onset with partial deficiencies are also seen.

A multiple neoplasia and lentiginosis syndrome characterized by myoxomas, mottled pigmentation, and endocrine dysfunction.

A water-soluble quaternary amine.

Pain in the distribution of the carotid artery.

A congenital syndrome characterized by oxycephaly and brachysyndactyly of the hands, polydactyly of the feet, and mental retardation. Also known as Carpenter syndrome.

A congenital syndrome characterized by oxycephaly and brachysyndactyly of the hands, polydactyly of the feet, and mental retardation. Also known as Carpenter syndrome.

A typical histopathological picture characterized by the presence of amorphous caseous mass, consisting mainly of degenerated cells, in the center of a granuloma.

Contactin-associated protein-like 2

A condition of diminished responsiveness usually characterized by trancelike states and by a waxy rigidity of the muscles so that the patient tends to remain in any position in which he or she is placed.

A sudden decrement in muscle tone and loss of deep tendon reflexes leading to muscle weakness, paralysis, or postural collapse. Cataplexy usually is precipitated by an outburst of emotional expression--notably laughter, anger, or startle. One of the tetrad of symptoms of narcolepsy. During cataplexy, respiration and voluntary eye movements are not compromised.

Severe developmental disabilities affecting intellect, behavior, and mood as a consequence of frequent seizures during early childhood.

Lesion of multiple lumbosacral roots in the region of the cauda equina, frequently resulting in sexual dysfunction and motor, reflex, and sensory deficits in the lower extremities, bladder, and bowel.

Lesion of multiple lumbosacral roots in the region of the cauda equina, frequently resulting in sexual dysfunction and motor, reflex, and sensory deficits in the lower extremities, bladder, and bowel.

An elongated, arched gray mass closely related to the lateral ventricle throughout its entire extent; together with the putamen, it forms the neostriatum.

A syndrome of sustained burning pain, allodynia, and hyperpathia after a traumatic nerve lesion, often combined with vasomotor and sudomotor dysfunction and later trophic changes.

Occult lesions that involve primarily veins, which usually remain clinically silent but may cause seizure, focal deficits, or hemorrhage. They consist of large sinusoidal vascular spaces densely clustered to form a compact mass which are surrounded by fibrous strands or septa and not normal neural tissue.

Occult lesions that involve primarily veins, which usually remain clinically silent but may cause seizure, focal deficits, or hemorrhage. They consist of large sinusoidal vascular spaces densely clustered to form a compact mass which are surrounded by fibrous strands or septa and not normal neural tissue.

continuous arteriovenous hemofiltration

A portion of the external ear forming the vestibule of the external auditory meatus.

Dilation of the velum interpositum that is the anterior extension of the subarachnoid space from the quadrigeminal plate cistern.

complete blood cell count

cerebral blood flow

cerebral blood volume

central core disease

cholecystokinin

1-(2-chloroethyl)-3-cyclohexyl-1-nitorsourea (lomustine)

cytochrome c oxidase

C-C chemokine receptor type 5

chronic cerebrospinal venous insufficiency

T-helper lymphocyte with CD4 antigen

Centers for Disease Control and Prevention

congenital disorders of glycosylation

carbohydrate deficient glycoprotein syndrome

complementary deoxyribonucleic acid

cytidine 5'-diphosphate

carcinoembryonic antigen

Single-nostril nose; ocular hypotelorism.

Visual field defect that involves both fixation and the physiological blind spot.

continuous EEG

Acquired reading disorder affecting the processes by which word forms activate meaning or speech production mechanisms.

A disease that presents early in life as a floppy infant or later in life in the setting of mild progressive muscle weakness. The disease is characterized by musculo-skeletal and cardiac abnormalities and follows an autosomal dominant pattern of inheritance. Definitive diagnosis can only be made by muscle biopsy. Malignant hyperthermia susceptibility is associated with the disease.

Caudal displacement of the cerebral hemisphere and basal nuclei by a supratentorial (usually frontal or parietal) mass lesion, resulting in compression and rostrocaudal translocation of the diencephalon and adjoining mesencephalon through the tentorial incisura.

A long-chain lipid base made up of sphingosine, a C18 unsaturated hydrocarbon with an amide bond to a fatty acid chain at C-2.

A heterogeneous condition associated with other cerebral malformations, metabolic disorders, and degenerative diseases beginning in fetal life. It may be global or, less commonly, involves only the vermis; selective involvement of the lateral cerebellar hemisphere with preservation of the vermis also is described but is rare. Vermal hypoplasia may leave a gap in the cerebellar midline, as with the autosomal recessive Joubert syndrome, or may be absence of the vermis with fusion of the medial surfaces of the cerebellar hemispheres and dentate nuclei, a condition known as rhombencephalosynapsis. Global cerebellar hypoplasia sometimes occurs without other cerebral dysgeneses. The most constant clinical findings in infancy are gross motor developmental delay and generalized muscular hypotonia; inconstant findings include nystagmus, corticospinal tract deficits, mental retardation, and epilepsy. Cerebellar hypoplasia may result in histochemical changes in the muscle biopsy of fiber-type predominance or congenital muscle fiber-type disproportion, but necrotizing and dystrophic alterations are not found. CT scan can often confirm the diagnosis, but MRI with sagittal images demonstrates it best. The basis pontis also may be hypoplastic. Prognosis depends on underlying associated diseases, especially if progressive. Dysgeneses of the forebrain, including most of the primary disorders of neuroblast migration, may be associated CNS findings. Many genes are involved in this syndrome, and cerebellar hypoplasia is a feature in many chromosomal disorders.

A heterogeneous condition associated with other cerebral malformations, metabolic disorders, and degenerative diseases beginning in fetal life. It may be global or, less commonly, involves only the vermis; selective involvement of the lateral cerebellar hemisphere with preservation of the vermis also is described but is rare. Vermal hypoplasia may leave a gap in the cerebellar midline, as with the autosomal recessive Joubert syndrome, or may be absence of the vermis with fusion of the medial surfaces of the cerebellar hemispheres and dentate nuclei, a condition known as rhombencephalosynapsis. Global cerebellar hypoplasia sometimes occurs without other cerebral dysgeneses. The most constant clinical findings in infancy are gross motor developmental delay and generalized muscular hypotonia; inconstant findings include nystagmus, corticospinal tract deficits, mental retardation, and epilepsy. Cerebellar hypoplasia may result in histochemical changes in the muscle biopsy of fiber-type predominance or congenital muscle fiber-type disproportion, but necrotizing and dystrophic alterations are not found. CT scan can often confirm the diagnosis, but MRI with sagittal images demonstrates it best. The basis pontis also may be hypoplastic. Prognosis depends on underlying associated diseases, especially if progressive. Dysgeneses of the forebrain, including most of the primary disorders of neuroblast migration, may be associated CNS findings. Many genes are involved in this syndrome, and cerebellar hypoplasia is a feature in many chromosomal disorders.

Abnormal dilatation of an arterial vessel of the brain.

Abnormal dilatation of an arterial vessel of the brain.

Blood clot formation in a vein draining blood within the brain.

A reversible, exaggerated constriction of the cerebral vessels in response to perivascular blood in the subarachnoid space.

A reversible, exaggerated constriction of the cerebral vessels in response to perivascular blood in the subarachnoid space.

Blood clot formation in a vein draining blood within the brain.

Focal suppurative infection of brain parenchyma occurring as an early event in development of brain abscess.

A ceramide with either glucose or galactose attached at C-1.

A myofascial injury.

cholesteryl ester storage disease

cytosine-guanine-cytosine

cytosine-guanine-guanine

calcitonin gene-related peptide

centigray

Congestive heart failure, Hypertention, Age, Diabetes, Stroke

Primary syphilitic skin lesion.

Primary syphilitic skin lesion.

Relating to the hand and mouth.

Lipid accumulation in retinal ganglion cells

A breathing pattern characterized by regular "crescendo-decrescendo" fluctuations in respiratory rate and tidal volume.

congestive heart failure

A life-long insomnia starting in early childhood that is not associated with psychiatric or organic factors.

A somewhat milder disorder of defective activity of lysosomal acid lipase than is Wolman disease. It is characterized by hepatomegaly and hyperlipoproteinemia. Patients often survive to the second decade or later and may also benefit from enzyme replacement therapy.

A condition in which there is coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), ptosis, and characteristic appearance of the ear (small pinna with a prominent crus). Syndactyly of digits two and three of the hand is variably present. Also known as Saethre-Chotzen syndrome.

A condition in which there is coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), ptosis, and characteristic appearance of the ear (small pinna with a prominent crus). Syndactyly of digits two and three of the hand is variably present. Also known as Saethre-Chotzen syndrome.

Insidious muscle atrophy in chronic alcoholism.

Acquired disorder of peripheral nerves, affecting motor and sensory fibers of the limbs, reaching the nadir of deficits 8 weeks or later from onset, and exhibiting a relapsing-remitting or progressive course. Diagnostic features include neurophysiologic evidence of demyelinating neuropathy, elevation of CSF protein level without pleocytosis, and neuropathologic findings of peripheral segmentary demyelination with perineural and endoneural inflammatory infiltrates. Pure motor or pure sensory variants are very rare and may represent an intermediate stage of the classic disease. Progressive chronic inflammatory demyelinating polyradiculoneuropathy is another variant, which shows a steadily worsening course without remission. Chronic inflammatory demyelinating polyradiculoneuropathy with severe axonal loss is a rare variant characterized by a relapsing-remitting course with evidence of axonal damage. Chronic inflammatory demyelinating polyradiculoneuropathy with monoclonal gammopathy of undetermined significance affects a subgroup of patients with the neuropathy and a monoclonal gammopathy usually of IgG or IgA type.

Acquired disorder of peripheral nerves, affecting motor and sensory fibers of the limbs, reaching the nadir of deficits 8 weeks or later from onset, and exhibiting a relapsing-remitting or progressive course. Diagnostic features include neurophysiologic evidence of demyelinating neuropathy, elevation of CSF protein level without pleocytosis, and neuropathologic findings of peripheral segmentary demyelination with perineural and endoneural inflammatory infiltrates. Pure motor or pure sensory variants are very rare and may represent an intermediate stage of the classic disease. Progressive chronic inflammatory demyelinating polyradiculoneuropathy is another variant, which shows a steadily worsening course without remission. Chronic inflammatory demyelinating polyradiculoneuropathy with severe axonal loss is a rare variant characterized by a relapsing-remitting course with evidence of axonal damage. Chronic inflammatory demyelinating polyradiculoneuropathy with monoclonal gammopathy of undetermined significance affects a subgroup of patients with the neuropathy and a monoclonal gammopathy usually of IgG or IgA type.

Multiple motor (but not vocal) tics with a duration of at least 1 year.

Refers to persistent symptoms present more than 6 months after an accident.

Only 1 type of tic present with a duration of at least 1 year.

Spinal epidural abscess presenting with a history over 4 weeks in length.

Spinal epidural abscess presenting with a history over 4 weeks in length.

A hemorrhage that is not present on early imaging of the posttraumatic brain, but develops usually at least 21 weeks after the initial injury.

A hemorrhage that is not present on early imaging of the posttraumatic brain, but develops usually at least 21 weeks after the initial injury.

Multiple vocal (but not motor) tics with a duration of at least 1 year.

Refers to persistent symptoms present more than 6 months after an accident.

The science relating to temporal, primarily rhythmical, processes in biology.

Acquired disorder of peripheral nerves, affecting motor and sensory fibers of the limbs, reaching the nadir of deficits 8 weeks or later from onset, and exhibiting a relapsing-remitting or progressive course. Diagnostic features include neurophysiologic evidence of demyelinating neuropathy, elevation of CSF protein level without pleocytosis, and neuropathologic findings of peripheral segmentary demyelination with perineural and endoneural inflammatory infiltrates. Pure motor or pure sensory variants are very rare and may represent an intermediate stage of the classic disease. Progressive chronic inflammatory demyelinating polyradiculoneuropathy is another variant, which shows a steadily worsening course without remission. Chronic inflammatory demyelinating polyradiculoneuropathy with severe axonal loss is a rare variant characterized by a relapsing-remitting course with evidence of axonal damage. Chronic inflammatory demyelinating polyradiculoneuropathy with monoclonal gammopathy of undetermined significance affects a subgroup of patients with the neuropathy and a monoclonal gammopathy usually of IgG or IgA type.

An innate daily fluctuation of physiological or behavioral functions, including sleep-wake states generally tied to the 24-hour daily dark-light cycle. Sometimes occurs at a measurably different periodicity (eg, 23 or 25 hours) when light-dark and other time cues are removed.

An innate daily fluctuation of physiological or behavioral functions, including sleep-wake states generally tied to the 24-hour daily dark-light cycle. Sometimes occurs at a measurably different periodicity (eg, 23 or 25 hours) when light-dark and other time cues are removed.

A biological rhythm that has a period length of about half a day.

A biological rhythm that has a period length of about half a day.

Speech that is indirect, excessively wordy

chronic immune sensory polyradiculopathy

constructive interference in steady state

Energy-producing cycle that takes place in the cell's mitochondria.

178 Asn Creutzfeldt-Jakob disease

creatine kinase

creatine kinase MM band (isoenzyme of creatine kinase with muscle subunits)

Characterized by a free interval of movement of the limb, followed by a sudden stop and increase in muscle resistance that diminishes as the passive stretching of the limb continues.

Characterized by a free interval of movement of the limb, followed by a sudden stop and increase in muscle resistance that diminishes as the passive stretching of the limb continues.

cervical lymph node

Molecular cloning involves isolating a DNA sequence and obtaining multiple copies of it in an organism. Large quantities of DNA can then be isolated in pure form for analysis. Cloning a gene involves isolating a single gene or a part of a gene from the remainder of the genomic DNA. The cloned gene can then be produced in an unlimited amount.

Head injury without penetration of skull.

Head injury without penetration of skull.

A congenital malformation in which the skull bones join to from three lobes. The condition may also be associated with hydrocephalus and facial and skeletal deformities. Also known as kleeblattsch.

A congenital malformation in which the skull bones join to from three lobes. The condition may also be associated with hydrocephalus and facial and skeletal deformities. Also known as kleeblattsch.

centromedian or parafascicular nucleus of the thalamus

compound muscle action potential

compound muscle action potentials

congenital muscle fiber-type disproportion

cerebral metabolic rate of glucose metabolism

congenital myasthenic syndrome or syndromes

Charcot-Marie-Tooth disease

cytomegalovirus

central nervous system

CNS tumor with BCOR internal tandem duplicatio

CNS neuroblastoma, FOXR2 activated

ciliary neurotrophic factor

contingent negative variation

coenzyme A

cerebro-ocular dysplasia-muscular dystrophy

carboxyhemoglobin

A test of ability to change sets. The examiner hides a coin in the left or right hand and changes its position according to patterns which change as the patient recognizes them. (eg, at the most elementary level, the examiner alternates regularly between hands. At the next level, he puts the coin in the hand opposite the one last chosen by the patient.)

collagen VI A1 gene

collagen VI A2 gene

collagen VI A3 gene

Inhibition of a neuron by a branch ("collateral") off the axon of its neighbor. The axon itself projects a long distance, whereas the collateral branch synapses close to the cell body. The nervous system uses this principle extensively in two settings. Most commonly, collateral inhibition enhances contrast and sharpens a stimulus such as an image or sensation, by inhibiting neighboring neurons with similar function to the ones firing. Less frequently, collateral inhibition reduces the function of neurons with a role opposite to the ones firing, producing a positive feedback loop.

Colors are recognized and matched but cannot be named.

collagen-like Q subunit

A state of complete unawareness of the environment; patients do not show any signs of awareness of themselves or of their environment; brainstem reflexes and posturing movements of the extremities are permissible, but eye opening should not occur in response to an external stimulus, and the patient should not move in a purposeful fashion.

A trauma causing cervical musculoligamental sprain or strain due to hyperextension-flexion, excluding fractures or dislocations of the cervical spine, head injury, or alteration of consciousness.

Hydrocephalus despite unobstructed communication between the ventricles and subarachnoid space, eg, normal-pressure hydrocephalus secondary to meningitis.

Analysis of gene defects by combining different mutations to restore the wild-type function.

Spastic paraparesis resulting from an L1 CAM gene mutation.

Mononeuropathy due to focal compression.

cerebro-oculo-muscular syndrome

catechol-ortho-methyl-transferase or catabolic enzymes catechol-O-methyltransferase

Loss of knowledge base needed to select and use the appropriate tool for a given context. These patients will make semantic or conceptual errors such as content and tool selection errors when asked to pantomime to command.

An insomnia that is produced by the development, during an earlier experience of sleeplessness, of conditioned arousal. Causes of the conditioned stimulus can include the customary sleep environment or thoughts of disturbed sleep. A conditioned insomnia is one component of psychophysiological insomnia.

Persistent and repetitive pattern of behavior that violates societal norms or the rights of others.

Persistent and repetitive pattern of behavior that violates societal norms or the rights of others.

Impaired ability to imitate gesture relative to pantomime to command.

Perineal or perianal skin lesions.

Involuntarily erroneous recall of autobiographical events, often associated with memory disorder

Infection of a fetus with a pathogenic organism.

A rare genetic X-linked dominant disorder classified as a form of chondrodysplasia punctata and characterized by skeletal defects, skin changes, cataracts, and short stature

From the same species as another organism

A chronobiological test of the endogenous pacemaker that involves a 36-hour baseline monitoring period, followed by a 40-hour waking episode of monitoring with the individual on a constant routine of food intake, position, activity, and light exposure.

Inability to copy object drawings. Patients often omit the left-side constituents in size and angles, as is seen with right posterior parietal lobe lesions.

Limitation of range of motion, usually at a joint or in a limb.

Opposite the side of brain injury

A subdural empyema lying over the cerebral convexity

chronic obstructive pulmonary disease

Coenzyme Q

Coenzyme Q10

A clinical assessment score for patients with Parkinson disease.

A clinical assessment score for patients with Parkinson disease.

The coronal suture closes early and restricts growth of the forehead on the "synostosed" side. This leads to a flattening of the forehead and a "compensatory" bulging of the forehead on the opposite side. Also known as plagiocephaly.

An arched mass of white matter in the depths of the longitudinal fissure, composed of transverse fibers connecting the cerebral hemispheres.

A subcortical mass of gray and white substance in front of and lateral to the thalamus in each cerebral hemisphere.

A spectrum of derangements in the development of the cerebral cortex that cause epilepsy in infants and children. It is associated with a range of morphologic features and with multiple putative etiologic factors including genetic and environmental influences. Cortical dysplasia is best evaluated microscopically, and can be characterized with regard to nine specific and easily identifiable microscopic abnormalities that may be present: (1) cortical laminar disorganization, (2) neurons in the neocortical molecular layer, (3) single heterotopic white matter neurons, (4) persistent remnants of the subpial granule cell layer, (5) marginal glioneuronal heterotopia, (6) neuronal heterotopia, (7) polymicrogyria, (8) neuronal cytomegaly with cytoskeletal abnormalities, and (9) balloon cells.

A spectrum of derangements in the development of the cerebral cortex that cause epilepsy in infants and children. It is associated with a range of morphologic features and with multiple putative etiologic factors including genetic and environmental influences. Cortical dysplasia is best evaluated microscopically, and can be characterized with regard to nine specific and easily identifiable microscopic abnormalities that may be present: (1) cortical laminar disorganization, (2) neurons in the neocortical molecular layer, (3) single heterotopic white matter neurons, (4) persistent remnants of the subpial granule cell layer, (5) marginal glioneuronal heterotopia, (6) neuronal heterotopia, (7) polymicrogyria, (8) neuronal cytomegaly with cytoskeletal abnormalities, and (9) balloon cells.

Involuntary myoclonic jerking induced by passive or voluntary movement of the involved body part, associated with focal contralateral sensorimotor cortical electrical discharge, following cerebral hemispheric injury.

Cowdry A are intranuclear inclusion bodies; Cowdry B are cytoplasmic inclusion bodies.

Cowdry A are intranuclear inclusion bodies; Cowdry B are cytoplasmic inclusion bodies.

cytochrome c oxidase

cerebellopontine angle

continuous positive airway pressure

CNS penetration effectiveness

chronic paroxysmal hemicrania

cerebral perfusion pressure

carbamyl phosphate synthetase

carnitine palmitoyltransferase

carnitine palmitoyltransferase I

carnitine palmitoyltransferase II

complete response

Alkaloidal cocaine.

cryptococcal antigenemia

A cephalocele containing only meninges.

A cephalocele containing only meninges.

An inherited cranial deformity characterized by widening of the skull and high forehead, abnormal width between and protrusion of the eyes, a beaked nose, and hypoplasia of the maxilla. Also called Crouzon syndrome.

A rare syndrome of craniosynostosis, radial aplasia, delayed psychomotor development, and variable craniofacial, cardiac, renal, and skeletal defects. Also known as Baller-Gerold syndrome.

Syndrome of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus.

Developmental abnormalities resulting from congenital hypothyroidism.

cross-reactive immune material

cross-reacting material

Aphasia following right hemisphere injury in a right-handed person, suggesting a premorbidly atypical brain organization for language.

An inherited cranial deformity characterized by widening of the skull and high forehead, abnormal width between and protrusion of the eyes, a beaked nose, and hypoplasia of the maxilla. Also called Crouzon syndrome.

An inherited cranial deformity characterized by widening of the skull and high forehead, abnormal width between and protrusion of the eyes, a beaked nose, and hypoplasia of the maxilla. Also called Crouzon syndrome.

C-reactive protein

congenital rubella syndrome

Cockayne syndrome complementation group A

Cockayne syndrome complementation group B

cerebrospinal fluid

continuous spikes and waves during slow sleep syndrome

computed tomography

computed tomography angiography

cytosine-thymidine-guanine

cerebrotendinous xanthomatosis

An optic neuropathy with many toxic/nutritional factors but principally exposure to methanol and folic acid deficiency.

Pathophysiological concept that explains benign paroxysmal postioning vertigo by particles attached to the cupula, rendering it sensitive to gravity.

cyclophosphamide-vincristine-dacarbazine

circulating vaccine-derived poliovirus type 2

connexin 32

C-X-C chemokine receptor 4

This is a normal phenomenon of NREM sleep. Periods of EEG activation briefly interrupt periods of sleep quiescence.

Single midline orbit.

cysteine

A vitamin B-6-dependent enzyme that catalyzes the transsulfuration of homocysteine. Homozygous deficiency of cystathionine beta-synthase is the most common cause of severe hyperhomocysteinemia.

Products secreted by cells of the immune system.

Products secreted by cells of the immune system.

central zed (midline)

Very rare disease of unknown etiology with early-onset developmental delay, seizures/hypsarrhythmia, and possibly weakness. D-2-hydroxyglutaric acid excretion is increased in urine.

The deoxynucleoside reverse transcriptase inhibitors (ie, zalcitabine [ddC], stavudine [d4T], didanosine [ddI]), which are older agents of the nucleoside/nucleotide reverse transcriptase inhibitors (NRTI) class of medications used to treat HIV and associated with a toxic polyneuropathy.

stavudine

down-gaze paralysis, ataxia, foam cells

dystrophin-associated glycoprotein

diffuse axonal injury

dural arteriovenous fistula

dural arteriovenous malformation

dopamine-beta-hydroxylase

dorsal column stimulation

desmopressin

dideoxycytidine

dideoxyinosine

dialysis disequilibrium syndrome

Long-term memory is often divided into two main types: explicit (or declarative) memory and implicit (or procedural) memory. Declarative is memory of facts and events, and refers to those memories that can be consciously recalled (or "declared"). It is sometimes called explicit memory because it consists of information that is explicitly stored and retrieved, although it is more properly a subset of explicit memory. Declarative memory can be further sub-divided into episodic memory and semantic memory.

Memory processes that operate under conscious awareness, including intentional learning and willful recall; factual memory.

Clinical symptoms and physical signs caused by a rapid reduction of the environmental pressure.

developmental and epileptic encephalopathy

Virions containing only a portion of the complete viral genome, which compete with the wild-type virus for replication, a mechanism of viral persistence.

Virions containing only a portion of the complete viral genome, which compete with the wild-type virus for replication, a mechanism of viral persistence.

Distortion by a physical force of an otherwise normal structure.

A condition that occurs when the clock hour at which sleep normally occurs is moved back in time within a given 24-hour sleep-wake cycle. This results in a temporarily displaced, that is delayed, occurrence of sleep within the 24-hour cycle. The same term denotes a circadian rhythm sleep disturbance, called the delayed sleep phase syndrome.

A hemorrhage that is not present on early imaging of the posttraumatic brain, but develops usually at least 6 hours after the initial injury.

A hemorrhage that is not present on early imaging of the posttraumatic brain, but develops usually at least 6 hours after the initial injury.

A state of waxing and waning consciousness, with prominent disorientation, fear, hallucinations, as well as an altered sleep/wake cycle.

Synonymous with atrial fibrillation, the state in which the normal rhythmical contractions of the cardiac atria are replaced by rapid irregular twitchings of the muscular wall, and the ventricles respond irregularly to the dysrhythmic bombardment from the atria.

Acute delirium or encephalopathy seen during alcohol withdrawal.

Acute delirium or encephalopathy seen during alcohol withdrawal.

EEG activity with a frequency of less than 4 Hz (usually 0.1-3.5 Hz). In human sleep scoring, the minimum characteristics for scoring delta waves is conventionally 75 'V (peak-to-peak) amplitude, and 0.5-second duration (2 Hz) or less.

Indicative of the stage of sleep in which EEG delta waves are prevalent or predominant (sleep stages 3 and 4, respectively). See Slow Wave Sleep.

Neuropathy resulting from damage to the myelin sheath of peripheral nerves.

Neuropathy resulting from damage to the myelin sheath of peripheral nerves.

Electron-dense spherical inclusions seen in the axon and axon hillock of ganglion cells.

Electron-dense spherical inclusions seen in the axon and axon hillock of ganglion cells.

This rapid method of sequencing and analyzing genes uses microchip technology based on miniaturization, integration, and parallel-processing techniques from the computer industry. DNA microchips are also used for the diagnosis of diseases and genetic screening.

This rapid method of sequencing and analyzing genes uses microchip technology based on miniaturization, integration, and parallel-processing techniques from the computer industry. DNA microchips are also used for the diagnosis of diseases and genetic screening.

Detachment from feeling responsible for or in control of one's own behavior.

A disease causing necrosis of the spinal cord that spreads caudally segment by segment.

A rare chronic noninflammatory, sporadic or inherited myopathy with or without a cardiomyopathy characterized by inclusions immunoreactive to desmin in skeletal and/or cardiac muscle. The myopathy is usually proximal, but combined proximal and distal features occur and the distal myopathy can predominate. Electron microscopy shows granulofilamentous inclusions in various arrangements.

A rare chronic noninflammatory, sporadic or inherited myopathy with or without a cardiomyopathy characterized by inclusions immunoreactive to desmin in skeletal and/or cardiac muscle. The myopathy is usually proximal, but combined proximal and distal features occur and the distal myopathy can predominate. Electron microscopy shows granulofilamentous inclusions in various arrangements.

Intrasarcoplasmic deposition of electron-dense granulofilamentous material, or bundles of filaments 8 to 10 nm thick, revealed by immunostaining with monoclonal antidesmin antibodies.

Hyperplasia of fibroblasts and disproportionate formation of fibrous connective tissue, especially in the stroma of a malignant tumor.

The muscle of the bladder wall that is responsible for emptying the bladder. It contracts with muscarinic, parasympathetic stimulation, using acetylcholine as a neuromuscular transmitter.

Failure of the external sphincter of the bladder to relax when the detrusor muscle contracts.

Specific difficulty in learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity.

A childhood condition of abnormal communication that causes delays in normal expressive or receptive language.

difluoromethylornithine

dynamic reference frame

DiGeorge/Velocardiofacial syndrome

DiGeorge syndrome

dihydroxycholestanoic acid

dihydroergotamine

3,4 dihydroxyphenylglycol

A subacute, asymmetric, proximal, painful motor neuropathy resulting from diabetes mellitus.

A distal symmetrical, predominantly sensory neuropathy resulting from diabetes mellitus.

Inability to break a substance down into simple sugars using a mixture of malt-derived enzymes.

diabetes insipidus, diabetes mellitus, optic atrophy, and sensorineural deafness

A powerful, rapid, and sensitive adjunct or alternative to traditional subtractive hybridization techniques. It enables a two-dimensional side-by-side comparison of gene sequences expressed in different cells, and does not require prior gene sequence info

A very rare disorder that affects chiefly children over the age of 7, characterized by large subacute or chronic myelinoclastic lesions, usually bilateral, in the centrum semiovale.

A widely variant autosomal recessive disorder of tetrahydrobiopterin metabolism resulting in reduced synthesis of biogenic amine neurotransmitters. Microcephaly, progressive neurologic deterioration, developmental delay, and convulsions are common. Variant forms have been described in which the neurologic signs are either minor or absent. The urine pterin pattern is similar to that seen in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency; therefore, definitive differential diagnosis can only be made by direct measurement of dihydropteridine reductase activity in blood or from blood on Guthrie cards. The tetrahydrobiopterin loading test is not always positive. Several mutations for both typical and atypical forms have been described.

diffuse infiltrative lymphocytosis syndrome

disorders of initiating and maintaining sleep

Perception of the same sound with different pitches in the normal and affected ear.

Elevation of the optic disk, which does not leak when studied with fluorescein angiography.

Uniparental disomy is the inheritance of two copies of a particular chromosome from one parent and none from the other. Isodisomy occurs when there are two copies of exactly the same chromosome from each parent, and heterodisomy when there are two different copies of a chromosome pair from the same parent.

Inability to pantomime to command, with spared ability to imitate gestures and manipulate objects in the environment. Other modality differences such as inability to pantomime as well as difficulty imitating gestures and using real tools may be included.

Involuntary intermittent events that resemble epileptic seizures but are psychologically induced.

Motor neuropathy that involves distal sensory and motor nerves symmetrically.

Pertaining to the daytime.

diabetic ketoacidosis

dorsolateral prefrontal cortex

diabetic lumbosacral radiculoplexus neuropathy

dystrophia myotonica I

dystrophia myotonica II

Duchenne muscular dystrophy

distal myopathy with rimmed vacuoles

deoxyribonucleic acid

This rapid method of sequencing and analyzing genes uses microchip technology based on miniaturization, integration, and parallel-processing techniques from the computer industry. DNA microchips are also used for the diagnosis of diseases and genetic screening.

This rapid method of sequencing and analyzing genes uses microchip technology based on miniaturization, integration, and parallel-processing techniques from the computer industry. DNA microchips are also used for the diagnosis of diseases and genetic screening.

The enzymes that assemble the polymer from deoxyribonucleotides in the triphosphate form during DNA replication. Breakdown of the triphosphate group releases a great deal of energy which drives DNA polymerization.

de novo purine synthesis

Dilatation and tortuosity

dopamine, 3,4-dihydroxyphenylacetic acid

An autosomal recessive disorder resulting in severe autonomic and noradrenergic dysfunction, stemming from inability to convert dopamine to norepinephrine. Symptoms are usually diagnosed in adulthood, although ptosis, hypothermia, severe orthostatic hypotension, hypoglycemia, and other autonomic abnormalities may have been evident since birth. Testing reveals extremely low levels of norepinephrine, epinephrine, and their metabolites in plasma, CSF, and urine.

diffuse pachymeningeal enhancement

diphtheria-pertussis-tetanus

Epileptic syndrome of genetic origin characterized by infantile onset, multiple seizure types, and progressive cognitive decline.

Epileptic syndrome of genetic origin characterized by infantile onset, multiple seizure types, and progressive cognitive decline.

dorsal root entry zone

dermatan sulfate

digital subtraction angiography

double-stranded deoxyribonucleic acid

Diagnostic and Statistical Manual of Mental Disorders

diagnostic and statistical manual of mental disorders.

Diagnostic and Statistical Manual of Mental Disorders, 4th edition

delayed sleep phase disorder

dexamethasone suppression test

dihydrotetrabenazine

diffusion tensor imaging

dacarbazine

delayed traumatic intracerebral hematoma

Diethylenetriamine pentaacetic acid

The outermost layer of the cranial meninges.

Blood clot formation in a vein draining blood within the brain.

Criteria established in the International Classification of Sleep Disorders for determining the duration of a particular disorder as acute, subacute, or chronic.

Diffusion-weighted imaging

Dual energy x-ray absorptiometry

Difficulty in organizing and planning language expression. Reduced spontaneous language, good comprehension, and good repetition are found.

Disturbance of articulation of speech.

A constellation of signs resembling a central sympathetic storm. Nausea or vomiting is a consistent feature. In addition, there is hypertension, tachycardia, diffuse sweating, erythematous skin blotching, and even personality change.

An indolent glioneural neoplasm of the temporal or frontal lobes that produces medically refreactory partial epilepsy.

Impairment of any sense, especially of the sense of touch; an unpleasant abnormal sensation produced by normal stimuli.

A partial deficit in reading. Colloquial usage has transformed it into a term used to describe the inability to acquire reading proficiency, with onset in childhood.

Widespread skeletal deformities seen in mucopolysaccharidoses, particularly Hurler disease. Includes poorly formed pelvis with small femoral heads and coxa valga; short, thickened, irregular clavicles; oar-shaped ribs; shortened, trapezoidal phalanges; enlarged diaphyses of long bones with irregular appearance of the metaphyses; underdeveloped epiphyseal centers; anterior hypoplasia of lumbar vertebrae with kyphosis; large skull with thickened calvarium; premature closure of the lambdoid and sagittal sutures; shallow orbits; enlarged J-shaped sella; odontoid hypoplasia.

Difficulty with normal swallowing.

Abnormal tissue development.abnormal cellular organization within a tissue resulting in structural changes—for example, within cartilage and bone in skeletal dysplasias.

Pertaining to abnormal speech intonation.

A primary disorder of initiating and maintaining sleep or of excessive sleepiness. The dyssomnias are disorders of sleep or wakefulness per se; not a parasomnia.

An involuntary movement disorder characterized by abnormal twisting, tremor, or posturing of a body part. Dystonias can be focal (involving a single body part), segmental (involving adjacent body parts), or generalized. Dystonias are most frequently idiopathic, but can occur secondary to neuroleptic use (tardive dystonia), structural lesions in the brain or spinal cord, or head trauma. Dystonias can also be a part of one of many inherited neurologic syndromes, such as Wilson disease, or occur in patients with Parkinson disease. Treatments for the various dystonias include trials of oral medications (such as anticholinergics, benzodiazepines, and baclofen) as well as botulinum toxin and deep brain stimulation.

An involuntary movement disorder characterized by abnormal twisting, tremor, or posturing of a body part. Dystonias can be focal (involving a single body part), segmental (involving adjacent body parts), or generalized. Dystonias are most frequently idiopathic, but can occur secondary to neuroleptic use (tardive dystonia), structural lesions in the brain or spinal cord, or head trauma. Dystonias can also be a part of one of many inherited neurologic syndromes, such as Wilson disease, or occur in patients with Parkinson disease, often as a sign of dopaminergic overdosing. Treatments include trials of oral medications (such as anticholinergics, benzodiazepines, and baclofen) as well as some surgical approaches (such as selective denervation for torticollis and myectomy for blepharospasm).

Congenital syphilis clinically manifested before 2 years of age.

A disease that presents in early infancy and is marked by erratic, fragmentary myoclonus, developmental delay, and early death.

Seizures occurring while the patient is still suffering from the direct effects of the head injury, a period commonly defined as 1 week after head injury.

Seizures occurring while the patient is still suffering from the direct effects of the head injury, a period commonly defined as 1 week after head injury.

emotion-focused cognitive behavioral therapy

electrocardiography

Speech limited to repetition of what is heard or perseveration on the last few words heard.

extracorporeal life support

extracorporeal membrane oxygenation

electrocorticography

electroconvulsive therapy: inducing convulsions by means of electricity; used in the treatment of certain psychiatric disorders, including refractory depression

Lower eyelid flaccidity.

encephalo-duro-angio-synangiosis

Emery-Dreifuss muscular dystrophy

Expanded Disability Status Scale

ethylenediaminetetraacetic acid

electroencephalography

epidermal growth factor

epidermal growth factor receptor

eosinophilic granulomatosis with polyangiitis

early growth response gene-2

The late development of pulmonary hypertension and right ventricular hypertrophy leading to the reversal of the preexisting shunt from left-to-right to right-to-left. Clinically characterized by a tetrad of an underlying heart defect that allows initial shunting of blood from the left side of the heart to the right; the development of pulmonary hypertension; polycythemia; the subsequent reversal of the shunt.

The late development of pulmonary hypertension and right ventricular hypertrophy leading to the reversal of the preexisting shunt from left-to-right to right-to-left. Clinically characterized by a tetrad of an underlying heart defect that allows initial shunting of blood from the left side of the heart to the right; the development of pulmonary hypertension; polycythemia; the subsequent reversal of the shunt.

electrocardiography

Learning under conditions where the to-be-learned materials are manipulated, as in making associations to the words (ie, "is it a pleasant word?" or making a sentence using the word).

endothelial leukocyte adhesion molecule-1

A recording of voltage changes resulting from shifts in position of the ocular globes, as each globe is a positive (anterior) and negative (posterior) dipole; along with the EEG and the EMG, one of the three basic variables used to score sleep stages and waking. Sleep recording in humans utilizes surface electrodes placed near the eyes to record the movement (incidence, direction, and velocity) of the eyeballs, Rapid eye movements in sleep form one part of the characteristics of the REM sleep state.

A recording of voltage changes resulting from shifts in position of the ocular globes, as each globe is a positive (anterior) and negative (posterior) dipole; along with the EEG and the EMG, one of the three basic variables used to score sleep stages and waking. Sleep recording in humans utilizes surface electrodes placed near the eyes to record the movement (incidence, direction, and velocity) of the eyeballs, Rapid eye movements in sleep form one part of the characteristics of the REM sleep state.

Inducing convulsions by means of electricity; used in the treatment of certain psychiatric disorders, including refractory depression.

Electrical test that quantitatively measures eye movements in response to stimulation of vestibular structures. It is used in elucidating the cause of vertigo, ie, peripheral versus central.

enzyme-linked immunoabsorbent assay

eyelid myoclonia with absences

Obstruction or occlusion of a vessel by a plug composed of a detached thrombus, vegetation, mass of bacteria, or other foreign body.

Obstruction or occlusion of a vessel by a plug composed of a detached thrombus, vegetation, mass of bacteria, or other foreign body.

electromyography

emergency management of stroke

Inflammatory disease of the brain.

A cephalocele containing both meninges and brain tissue.

A cephalocele containing meninges, brain tissue, and part of the ventricle.

Inflammatory disease of the brain and spinal cord.

Carbon dioxide value usually determined at the nares by an infrared carbon dioxide gas analyzer. The value reflects the alveolar or pulmonary arterial blood carbon dioxide level.

Carbon dioxide value usually determined at the nares by an infrared carbon dioxide gas analyzer. The value reflects the alveolar or pulmonary arterial blood carbon dioxide level.

A surgical procedure that strips the inner lining of an artery generally to remove atherosclerotic plaque.

A method in which a catheter passed from within the vessel is used for treatment.

epidural nevus syndrome

Inflammation of tendonous or muscular attachment to bone.

Synchronization of a biological rhythm by a forcing stimulus such as an environmental time cue (Zeitgeber). During entrainment, the frequencies of the two cycles are the same or are integral multiples of each other.

A drug that increases synthesis of drug-metabolizing enzymes.

A recording of voltage changes resulting from shifts in position of the ocular globes, as each globe is a positive (anterior) and negative (posterior) dipole; along with the EEG and the EMG, one of the three basic variables used to score sleep stages and waking. Sleep recording in humans utilizes surface electrodes placed near the eyes to record the movement (incidence, direction, and velocity) of the eyeballs, Rapid eye movements in sleep form one part of the characteristics of the REM sleep state.

European Organization for Research on Treatment of Cancer

An inflammatory disease of skeletal muscle that is characterized by an eosinophilic infiltration of muscle perimysium or endomysium, without evidence of a parasitic infection.

epilepsia partialis continua

A false synapse at which ectopic activity may be triggered by mechanical irritation, changes in regional electrolyte concentration, or flow of extracellular current during passage of nerve impulses in adjacent fibers.

Activation of an axon by "cross-talk" from a neighboring axon. Axons are normally shielded by their Schwann cells and by a purposely short length of contiguity between any two fibers. The nerve sprouts that follow a nerve injury have neither of these properties.

A neurocutaneous disease involving a variety of cutaneous nevi but also including verrucous lesions, sebaceous and hair follicle involvement, and pigmentary changes on the face and scalp primarily, but also involving the trunk and extremities.

Location outside and adjacent to the dura.

A particular form of partial status epilepticus characterized by continuous focal clonic motor seizures.

Infantile-onset epilepsy associated with psychomotor retardation and multiple seizure types, but most prominently myoclonic and atonic seizures.

Learning and recall of facts and events.

A measure of duration of the sleep recording that typically is 20 or 30 seconds in duration, depending on the paper speed of the polysomnograph, and corresponds to one page of the polysomnogram.

endplate potential

endplate potntials

electroretinography or electroretinogram

event-related potentials

event-related potentials

erythrocyte sedimentation rate

end-stage renal disease

Monosymptomatic myoclonus, usually with autosomal dominant inheritance.

Holes that are seen in the brain due to enlarged perivascular or Virchow-Robin spaces.

Holes in the brain due to postmortem gas formation.

electron transfer flavoprotein

Intraocular proboscis; ocular hypotelorism.

embryonal tumor with multilayered rosettes

Protrusion of the eyeball(s).

The opening of the external auditory canal.

A major output structure, in conjunction with the substantia nigra reticulata, of the basal ganglia.

The surgical removal of scar tissue in a circumferential fashion from around an injured peripheral nerve.

Unawareness of a stimulus on one side only when there is a competing stimulus on the opposite side

Outside the pyramidal tract; generally referring to disorders of the basal ganglia.

Fibrous or exudative adhesions of vitreous and retina

Childhood-onset epileptic syndrome characterized by eyelid myoclonus, brief absences, photosensitivity, and normal intellect.

familial amyloidosis-British type

fatty acid-binding protein

Symmetric bilateral hyperintensities of the midbrain and pons seen on axial T2-MRI in Wilson disease. Resembles the "hot cross bun" sign described in multiple system atrophy.

Symmetric bilateral hyperintensities of the midbrain and pons seen on axial T2-MRI in Wilson disease. Resembles the "hot cross bun" sign described in multiple system atrophy.

Symmetric bilateral hyperintensities in the dorsal pons seen on axial T2-MRI in Wilson disease.

Symmetric bilateral hyperintensities in the dorsal pons seen on axial T2-MRI in Wilson disease.

Symmetric bilateral hyperintensities of the midbrain and pons seen on axial T2-MRI in Wilson disease. Resembles the "hot cross bun" sign described in multiple system atrophy.

Symmetric bilateral hyperintensities in the dorsal pons seen on axial T2-MRI in Wilson disease.

A mutation (1691 G to A, leading to Arg506 to Gln) in the gene for coagulation factor V that causes a hypercoagulable state.

flavin adenine dinucleotide

fatty aldehyde dehydrogenase

Disorders of renal tubular function.

Disorders of renal tubular function.

Fibroblast activation protein imaging

Curvilinear lipid cytoplasmic inclusion bodies seen in macrophages under electron microscopy in Farber disease.

Curvilinear lipid cytoplasmic inclusion bodies seen in macrophages under electron microscopy in Farber disease.

fetal alcohol syndrome

focal areas of signal intensity

United States Food and Drug Administration

18-fluorodeoxyglucose

18-fluorodeoxyglucose positron emission tomography

Otherwise unprovoked seizures that occur in the setting of fever in infants and children between 3 months and 5 years of age.

Otherwise unprovoked seizures that occur in the setting of fever in infants and children between 3 months and 5 years of age.

focal external beam radiation therapy

A disorder characterized by selective dysfunction of the femoral nerve(s) due to axonal loss or segmental demyelination or both.

A disorder characterized by selective dysfunction of the femoral nerve(s) due to axonal loss or segmental demyelination or both.

free erythroprotoporphyrin

Syndrome due to intrauterine fetal exposure to ethanol, and characterized by two of the following criteria: (1) prenatal or postnatal growth retardation, (2) developmental delay or intellectual impairment, and (3) at least two of the following craniofacial abnormalities: microcephaly, shortened palpebral fissures, poorly developed philtrum, thin upper vermillion, or flattened maxillary area.

The range of outcomes caused by prenatal exposure to alcohol. This term is not a diagnosis but is used principally for research purposes and recognizes the important fact that exposure to alcohol during development can induce damage to the brain or other organs without causing the full fetal alcohol syndrome.

A constellation of developmental defects caused by intrauterine exposure to ethanol and characterized by the following 3 criteria: (1) prenatal or postnatal growth retardation, (2) neurodevelopmental abnormalities, and (3) a characteristic set of midfacial abnormalities, which include shortened palpebral fissures, poorly developed philtrum, thin upper vermillion, and flattened maxillary area.

ratio of one-second expiratory volume to vital capacity

fibroblast growth factor 3 gene

fibroblast growth factor receptor

percent inspired carbon dioxide

The amount of wakefulness that occurs after the final wake-up time until the arise time (lights on).

The clock time at which an individual awakens for the last time before the arise time.

percent inspired oxygen

The effect of the environment and polysomnographic recording apparatus on the quality of the subject's sleep the first night of recording. Sleep is usually of reduced quality compared to that which would be expected in the subject's usual sleeping environment, without electrodes and other recording procedure stimuli. The subject usually will habituate to the laboratory by the time of the second night of recording.

An infant whose muscles and joints do not show normal resistance when moved passively. This is most noticeable when the infant is passively lifted against gravity.

An infant whose muscles and joints do not show normal resistance when moved passively. This is most noticeable when the infant is passively lifted against gravity.

Writing disturbance associated with fluent aphasia. Writing is abundant, calligraphy is normal, but a significant amount of errors in letters and words are observed.

Language disorder with normal rate and ease of word production.

The essential steps of the procedure are preparation of the specimen, probe-labeling, hybridization, and detection. Several methods are used for detection.

A radiolabeled tracer used in positron emission tomography to measure dopaminergic neuronal function.

fibromuscular dysplasia

fragile X mental retardation-1

fragile XE menatal retardation-2

Functional magnetic resonance imaging, which uses radio waves and intense magnetic fields to photograph and measure regional cerebral metabolism during a specified task.

fragile X mental retardation protein

Familial oculo-leptomeningeal amyloidosis

A vitamin that is required for some methyl transfer reactions. Deficiency of folic acid causes megaloblastic anemia and hyperhomocysteinemia.

frontopolar zed (midline)

fragile X

Alkaloidal cocaine.

Disturbance in calculation abilities resulting from a frontal lobe damage. It is associated with: attentional difficulties, perseveration, and impairments of complex mathematical concepts.

Greatest white matter loss in the frontal lobes.

Insidious and progressive deterioration in executive cognition.

Insidious and progressive deterioration in executive cognition.

Functions thought to be subserved by the frontal lobe. These include organizing, sequencing, and planning; mental flexibility and adaptability; maintaining and changing a cognitive set; and abstraction, judgment, and reasoning.

Functions thought to be subserved by the frontal lobe. These include organizing, sequencing, and planning; mental flexibility and adaptability; maintaining and changing a cognitive set; and abstraction, judgment, and reasoning.

febrile seizures plus

follicle-stimulating hormone

facioscapulohumeral dystrophy (or disease)

facioscapulohumeral muscular dystrophy

fluorescent treponemal antibody absorption (test)

frontotemporal dementia with parkinsonism

frontotemporal lobar degeneration-tauopathy

frontotemporal lobar degeneration-ubiquinopathy

Insomnia no longer associated with its initial cause.

nafamostat mesilate

activated factor VII

Fragile X-associated tremor/ataxia syndrome

frontal zed (midline)

glucose-6-phosphate dehydrogenase

(1) acid alpha-glucosidase; (2) guanine-adenosine-adenosine

gamma-aminobutyric acid

gamma-aminobutyric acid A receptor

group A beta-hemolytic streptococcus

glutamic acid decarboxylase

glutamic acid decarboxylase 65

Uridine diphosphate galactose-4-epimerase deficiency

Galactokinase deficiency

galactose-1-phosphate uridyltransferase

An autosomal recessive lipidosis caused by glucocerebrosidase deficiency, and resulting in abnormal lysosomal storage of glucosylceramide in the cells of the reticuloendothelial system. Separated into type 1 (adult) chronic nonneuronopathic Gaucher disease, type 2 (infantile) acute neuronopathic Gaucher disease, and type 3 (juvenile) subacute neuronopathic Gaucher disease.

An autosomal recessive lipidosis caused by glucocerebrosidase deficiency, and resulting in abnormal lysosomal storage of glucosylceramide in the cells of the reticuloendothelial system. Separated into type 1 (adult) chronic nonneuronopathic Gaucher disease, type 2 (infantile) acute neuronopathic Gaucher disease, and type 3 (juvenile) subacute neuronopathic Gaucher disease.

glioblastoma multiforme

gas chromatography (or glucocerebrosidase)

giant cell arteritis

glutaryl-CoA dehydrogenase

Glasgow Coma Scale

granulocyte colony stimulating factor

gadolinium-diethylenetriamine pentaacetic acid

glial cell line-derived neurotrophic factor

Active resistance of any effort to examine or move a patient.

Active resistance of any effort to examine or move a patient.

Seizures characterized by unusual happiness or laughter and often linked with hypothalamic hamartomas.

Seizures that initially involve both hemispheres, usually with impairment of consciousness at the outset. They include absence (typical or atypical), myoclonic, tonic, clonic, tonic-clonic, and atonic seizures.

A deformity with the knees abnormally close, ie, "knock kneed."

Acalculia, agraphia, right-left disorientation, and finger agnosia. It has been related with left angular gyrus pathology.

Acalculia, agraphia, right-left disorientation, and finger agnosia. It has been related with left angular gyrus pathology.

glial fibrillary acidic protein

gamma-glutamyl transferase

growth hormone

gamma hydroxybutyrate acid

gastrointestinal

An aneurysm with a diameter that equals or exceeds 25 mm.

A hump.

A standardized scoring system used to assess severity of brain injury

A 51-kd intermediate filament expressed by neoplastic glial cells; an immunochemical staining technique that identifies glial cells by using antibodies directed against cytoplasmic glial fibrillary acidic protein.

A 51-kd intermediate filament expressed by neoplastic glial cells; an immunochemical staining technique that identifies glial cells by using antibodies directed against cytoplasmic glial fibrillary acidic protein.

A major output structure, in conjunction with the substantia nigra reticulata, of the basal ganglia.

A major output structure, in conjunction with the substantia nigra reticulata, of the basal ganglia.

A major output structure, in conjunction with the substantia nigra reticulata, of the basal ganglia.

A major output structure, in conjunction with the substantia nigra reticulata, of the basal ganglia.

A major output structure, in conjunction with the substantia nigra reticulata, of the basal ganglia.

glutamine

A ceramide with a glucose moiety esterified to the C-1 of ceramide in a beta-glucosidic linkage.

Production of new glucose from noncarbohydrate sources.

A ceramide with a glucose moiety esterified to the C-1 of ceramide in a beta-glucosidic linkage.

A ceramide with a glucose moiety esterified to the C-1 of ceramide in a beta-glucosidic linkage.

glycine

The collective term for the processes in which proteins and lipids are modified with carbohydrates.

monosialoganglioside

guanosine monophosphate or guanosine-5-monophosphate

gonadotropin-releasing hormone

greater occipital nerve

Glasgow Outcome Scale

granulomatosis with polyangiitis (Wegener)

A major output structure, in conjunction with the substantia nigra reticulata, of the basal ganglia.

A major output structure, in conjunction with the substantia nigra reticulata, of the basal ganglia.

Petrositis with abducens paresis and trigeminal-distribution pain (often in the temporal region) typically resulting from suppurative otitis media spreading to the petrous apex and affecting the gasserian ganglion in Meckel's cave and the abducens nerve in Dorello's canal.

Meningitis due to Enterobacteriaceae, Pseudomonas aeruginosa, and other gram-negative bacteria.

Meningitis due to Staphylococcus aureus, coagulase-negative Staphylococcus, Streptococcus Group A, B (non-neonatal), and D, not including pneumococci or listeria.

Involuntary clenching of the hand to tactile stimulation.

Gerstmann-Straussler-Scheinker syndrome

generalized tonic-clonic seizures

guanosine triphosphate

An autosomal recessive or dominant disorder of tetrahydrobiopterin metabolism resulting in reduced synthesis of biogenic amine neurotransmitters. GTP cyclohydrolase is the first enzyme in the biosynthetic pathway for tetrahydrobiopterin synthesis. Symptoms and signs in the recessive form are similar to those in other tetrahydrobiopterin disorders, with notable features of greatly reduced neopterin and biopterin in urine and cerebrospinal fluid after oxidation. The dominant form leads to dopa-responsive dystonia.

Tertiary syphilitic granulomas.

Global Utilization of Streptokinase and tPA for Occluded Arteries

hypoplastic corpus callosum

The electrically elicited spinal monosynaptic reflex that bypasses the muscle spindles.

The electrically elicited spinal monosynaptic reflex that bypasses the muscle spindles.

The electrically elicited spinal monosynaptic reflex that bypasses the muscle spindles.

The electrically elicited spinal monosynaptic reflex that bypasses the muscle spindles.

The electrically elicited spinal monosynaptic reflex that bypasses the muscle spindles.

hippocampal avoidance whole-brain radiotherapy

highly active antiretroviral therapy

human ATX1 homologue

HTLV-1 associated myelopathy/tropical spastic paraparesis

An overgrowth in an organ of cytologically normal cells that are native to that organ, forming a discrete mass.

headache associated with neurologic deficits and cerebrospinal fluid lymphocytosis

The combination of alleles for different genes that are close together on the same chromosome and tend to be inherited together.

The combination of alleles for different genes that are close together on the same chromosome and tend to be inherited together.

hyperbaric oxygen

hyperbaric oxygen therapy

hepatitis B virus surface antibody

hepatitis B virus surface antigen

hepatitis B virus

Hereditary Cystatin C Amyloid Angiopathy

human chorionic gonadotrophin

human chorionic gonadotrophin

Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type

Hereditary Cerebral Hemorrhage with Amyloidosis-Flemish type

Hereditary Cerebral Hemorrhage with Amyloidosis-Icelandic type

hemocytology index

high-density lipoprotein

The headache of ischemic cerebrovascular disease is equally likely to be abrupt or gradual in onset, and the quality of pain varies widely among patients. The headache is usually unilateral, focal, and of mild to moderate severity. It is frequently frequently associated with nausea, vomiting, and photophobia and phonophobia. It is theorized that the headache is mostly related to electrochemical or mechanical stimulation of the trigeminovascular afferent system.

These are essential for cell viability and are considered to offer protection from harmful conditions by binding to improperly folded or denatured proteins that accumulate during stress. Heat shock proteins protect cells from oxidative stress, heat shock, toxins, and cellular damage following ischemia or sepsis-induced injury.

hemolytic anemia, elevated liver enzymes, low platelets

Defective vision in bright light, or "day blindness."

Loss of vision for one half of the visual field for one or both eyes.

A headache disorder, often responsive to indomethacin, consisting of continuous lateralized dull aching, with superimposed jolts of pain and attacks of pounding severe pain ipsilateral to the dull ache.

Hemisensory deficit.

A breakdown product of hemoglobin.

Pressure-induced vertigo, nystagmus, or both elicited by insufflation of the external auditory canal. It is often a sign of perilymphatic fistulae and Meniere syndrome.

high-efficiency particle accumulator vacuum cleaner

An autosomal recessive disease caused by deficiency of cystathionine beta-synthase.

hereditary endotheliopathy with retinopathy, nephropathy, and stroke

A method of measuring the protrusion of the cornea relative to the lateral orbital rim by a particular device. Upper limits of normal are defined based on sex and racial group.

A method of measuring the protrusion of the cornea relative to the lateral orbital rim by a particular device. Upper limits of normal are defined based on sex and racial group.

A qualifier for populations of neurons that receive input from more than one sensory modality and from other heteromodal populations of neurons either individually or collectively, eg, heteromodal neocortex; similar to 'multimodal.'

Normal tissue in an abnormal location. Specifically, displacement of gray matter into the deep white matter.

Normal tissue in an abnormal location. Specifically, displacement of gray matter into the deep white matter.

hexosaminidase A

hexosaminidase B

Enzyme composed of alpha and beta subunits.

Enzyme composed of two beta subunits.

hemoglobin A1C

hyperornithinemia-hyperammonemia-homocitrullinuria

hypotonia-hypomentia-hypogonadism-obesity (syndrome)

hyperglycemic hyperosmolar nonketotic state

hereditary hemorrhagic telangiectasia

human herpes virus

hydroxyindoleacetic acid

Haemophilus influenzae type b

Congenital megacolon from colonic agangliosidosis.

human immunodeficiency virus

human immunodeficiency virus type 1

hip-knee-ankle-orthosis

human leukocyte antigen

human leukocyte antigen, locus DR

3-hydroxy-3-methylglutarate

3-hydroxy-3-methylglutaryl-coenzyme A

An autosomal recessive disorder of organic acid metabolism with onset often within the first year of life. Symptoms of vomiting, tachypnea, and lethargy are seen with associated nonketotic aciduria, hypoglycemia, and hyperammonemia.

hexamethylpropyleneaminoeoxime

hereditary neuropathy with liability to pressure palsies

The electrically elicited spinal monosynaptic reflex that bypasses the muscle spindles.

The electrically elicited spinal monosynaptic reflex that bypasses the muscle spindles.

A sulfur-containing amino acid derived from metabolism of methionine.

A rare inherited disorder of metabolism, characterized by urine that turns black when exposed to air. Another characteristic is the development of arthritis in adulthood. Also known as ochronosis or homogentisic acid oxidase deficiency.

A major metabolite of dopa, dopamine, and norepinephrine that is detectable in the blood, urine, and cerebrospinal fluid.

Congenital megacolon from colonic agangliosidosis.

Cruciform signal hyperintensity in the mid-pons seen in multiple system atrophy. Resembles "face of the giant panda" sign, described in Wilson disease.

Cruciform signal hyperintensity in the mid-pons seen in multiple system atrophy. Resembles "face of the giant panda" sign, described in Wilson disease.

Cruciform signal hyperintensity in the mid-pons seen in multiple system atrophy. Resembles "face of the giant panda" sign, described in Wilson disease.

holoprosencephaly

high-performance liquid chromatography

high pressure liquid chromatography with diode-array detection

hypoxanthine-guanine phosphoribosyltransferase

health-related quality of life

heparan sulfate

hereditary sensory and autonomic neuropathy

hemorrhagic shock and encephalopathy syndrome

heat shock protein 40

heat shock protein 60

herpes simplex virus

herpes simplex virus type 1

herpes simplex virus type 2

human herpesvirus 3

human T-cell lymphotropic virus

human T cell lymphotropic virus type 1

hydroxyurea

Atrophy of the rostral and caudal midbrain tegmentum seen on sagittal T1-MRI in progressive supranuclear palsy may resemble the bill of a hummingbird.

Atrophy of the rostral and caudal midbrain tegmentum seen on sagittal T1-MRI in progressive supranuclear palsy may resemble the bill of a hummingbird.

An autosomal recessive mucopolysaccharide caused by deficiency of alpha-L-iduronidase. Characterized by excretion of dermatan sulfate and heparan sulfate in the urine. Onset is usually around 1 year with symptoms of progressive mental deterioration, gargoyle facies, kyphosis, dwarfism, dysotosis multiplex, hepatosplenomegaly, and cardiac defects. Death occurs by 10 years, usually by respiratory infection or heart failure. Also known as mucopolysaccharidosis I-H.

Intermediate autosomal recessive syndrome between mucopolysaccharidosis I-H and mucopolysaccharidosis I-S. Caused by deficiency of alpha-L-iduronidase. Symptoms consist of hearing loss, visual impairment, dysotosis multiplex pachymeningitis cervicalis, and little or no intellectual dysfunction. Also known as mucopolysaccharidosis I-H/S.

Notched incisors.

Notched incisors, eighth cranial nerve deafness, and interstitial keratitis.

Notched incisors.

Notched incisors, eighth cranial nerve deafness, and interstitial keratitis.

Extremely rapid aging from unknown etiology with death within the first decade.

homovanillic acid

humphrey visual field

hemagglutinating virus of Japan

Fear of water in rabies patients due to uncomfortable contractions of the diaphragm and other inspiratory muscles, which may be precipitated by attempts to swallow.

(From hyper, increased, and algesia, pain) Increased pain from a stimulus that normally provokes pain.

Elevated carbon dioxide level in blood.

hypercreatinekinasemia

Any prothrombotic condition caused by a specific disorder of blood coagulation.

A systemic disease characterized by idiopathic eosinophilia (> 1500/mm3 ) of at least 6 months duration, or of less duration if there already is evidence of organ involvement by eosinophils or related mechanisms.

(From hyper, increased, and esthesia, sensation) Increased sensitivity to stimulation, excluding the special senses, defined as a reduced threshold.

Immunologic response greater than that expected as a normal response to foreign antigen.

Immunologic response greater than that expected as a normal response to foreign antigen.

Seizures with bizarre hyperactive automatisms.

Increased number of mutations in a genome beyond that expected by chance; associated with defined regions of a genome, often designated "hot areas."

(Hyper, increased, and pathia, suffering) A painful syndrome characterized by an abnormally painful reaction to a stimulus, especially a repetitive stimulus, as well as an increased threshold.

hyperkalemic periodic paralysis

Extreme width between two bodily parts (such as the eyes).

Neuropathy characterized by segmentary enlargement of nerve trunks, resulting from repeated cycles of demyelination and remyelination, as demonstrated by the presence of onion bulbs.

Neuropathy characterized by segmentary enlargement of nerve trunks, resulting from repeated cycles of demyelination and remyelination, as demonstrated by the presence of onion bulbs.

A syndrome characterized by a variety of somatic symptoms induced by physiologically inappropriate hyperventilation and usually reproduced in whole or in part by voluntary hyperventilation.

(From hypo, reduced, and esthesia, sensation) Reduced sensation to a particular modality, often included in the term (eg, hypesthesia to temperature sensation), defined experimentally as increased threshold to that modality.

Occurrence of an event during the transition from wakefulness to sleep.

Vivid sensory images occurring at sleep onset, but particularly vivid with sleep-onset REM periods. A feature of narcoleptic naps, when the onset occurs with REM sleep.

Vivid sensory images occurring at sleep onset, but particularly vivid with sleep-onset REM periods. A feature of narcoleptic naps, when the onset occurs with REM sleep.

Vivid sensory images occurring at sleep onset, but particularly vivid with sleep-onset REM periods. A feature of narcoleptic naps, when the onset occurs with REM sleep.

A "sleep start" or sudden body (hypnic jerk), observed normally just at sleep onset and usually resulting, at least momentarily, in an awakening.

A "sleep start" or sudden body (hypnic jerk), observed normally just at sleep onset and usually resulting, at least momentarily, in an awakening.

Occurrence of an event during the transition from sleep to wakefulness at the termination of a sleep episode.

Occurrence of an event during the transition from sleep to wakefulness at the termination of a sleep episode.

Occurrence of an event during the transition from sleep to wakefulness at the termination of a sleep episode.

Insomnia or daytime sleepiness associated with hypnotic use and a pronounced difficulty in discontinuing the hypnotic medication due to the worsening of sleep, sleepiness, or other patient distress.

(From hypo, reduced and algesia, pain) Diminished pain in response to a normally painful stimulus.

Decreased sensitivity to stimulation, excluding the special senses.

Reduced voluntary motor activity in a body part.

A episode of shallow breathing (airflow reduced by at least 50%) during sleep lasting 10 seconds or longer, usually associated with a fall in blood oxygen saturation.

hypokalemic periodic paralysis

Developmental anomaly with urethral wall defect opening into the vagina or the underside of the penis.

A developmental brain disorder of a non-growing lesion most often attached in the 3rd cerebral ventricle and associated with gelastic seizures and developmental delay.

inclusion cell

Lysosomal enzyme deficiency resulting from a defective posttranslational modification. Also known as mucolipidosis II.

An adverse event that results from treatment.

inclusion body myositis

The clock time at which a person gets into bed. The into bed time (IBT) will be the same as the bedtime for many people, but not for those who spend time in wakeful activities in bed, such as reading, before attempting to sleep.

iodine-123-iodobenzamide

internal carotid artery

infantile convulsions and charcoathetosis

International Classification of Epilepsies and Epileptic Syndromes

A congenital skin condition that causes the epidermis to become dry and rough like fish scales.

intracranial pressure

International Classification of Sleep Disorders

A code number of the International Classification of the Sleep Disorders (ICSD) that refers to modifying information of a diagnosis, such as associated symptom, severity, and duration of a sleep disorder.

intensive care unit

insulin-dependent diabetes mellitus

Impaired skill performance due to improper reproduction of the required movement sequences or the spatial configuration of the involved body part, not attributable to weakness, incoordination, sensory loss, or failure to understand the task.

isocitrate dehydrogenase

interferon

immunoglobulin A

immunoglobulin D

immunoglobulin E

insulinlike growth factor

immunoglobulin G

Immunoglobulin G4

Immunoglobulin G4-related hypophysitis

Immunoglobulin G4-related hypertrophic pachymeningitis

Immunoglobulin G4-related disease

immunoglobulin M

immunoglobulin M/G

image-guided system

International Headache Society

interleukin

interleukin-1

interleukin-12

interleukin-1 receptor antagonist

interleukin-2

interleukin-6

interleukin 1-beta

International League Against Epilepsy

isolated lissencephaly sequence

Disinhibited copying of another person's speech or actions, synonymous with the terms echolalia and echopraxia.

The shortest time-frame memory system that operates over seconds. It is sometimes referred to as registration.

An epileptic seizure that occurs within 5 minutes of head trauma.

An epileptic seizure that occurs within 5 minutes of head trauma.

A group of different inflammatory disorders, which are associated with paradoxical deterioration of various preexisting infectious processes following commencement of highly active antiretroviral therapy in HIV-infected patients.

The differential expression of a gene depending on the parent from whom it was inherited. This would allow similar deletions to have different phenotypic expression.

A powerful and versatile tool for detection and localization of nucleic acid sequences within an intact cell, chromosome, or a tissue preparation by means of labeled complementary sequences.

infantile neuronal ceroid lipofuscinosis

interferon

isonicotinic acid hydrazide

international normalized ratio

Soluble factors released by immune and nonimmune cells, which regulate immune responses.

A term sometimes used for NREM stage 2 sleep. See Deep Sleep; Light Sleep. Often used, especially in the French literature, for stages combining elements of stage 2 and REM sleep.

Insomnia associated with increased activity in the reticular activating system.

A situation where different circadian rhythms are not entrained to a fixed external rhythm, resulting in potentially symptomatic phase angle differences between the rhythms.

A major output structure, in conjunction with the substantia nigra reticulata, of the basal ganglia.

The clock time at which a person gets into bed. The into bed time (IBT) will be the same as the bedtime for many people, but not for those who spend time in wakeful activities in bed, such as reading, before attempting to sleep.

Bleeding into the substance of the brain.

Infection occurring between the outermost layer of the meninges, the cranial dura, and the overlying skull.

Infection occurring between the outermost layer of the meninges, the cranial dura, and the overlying skull.

Infection occurring between the outermost layer of the cranial meninges, the dura, and the cranial arachnoid.

Seizures not controlled with anti-seizure medications. By definition, therapy-resistant epilepsy consists of more than 1 seizure per month.

Within the lumen of a vessel.

Invasion of the parenchyma of the spinal cord by a malignant solid tumor that arises outside the CNS.

Disorders that either originate or develop from within the body, or arise from causes within the body. The intrinsic sleep disorders are a subgroup of the dyssomnias.

Disorders that either originate or develop from within the body, or arise from causes within the body. The intrinsic sleep disorders are a subgroup of the dyssomnias.

A piece of DNA of unknown function that is interspersed between exons.

Specialized membrane proteins that convert metabolic energy into the work of moving ions across membranes against their electrochemical gradient.

Specialized membrane proteins that convert metabolic energy into the work of moving ions across membranes against their electrochemical gradient.

infantile-onset Pompe disease

inositol triphosphate

infantile-onset Pompe disease

imprinted gene in the PWS region

intelligence quotient

International Restless Legs Severity Scale

Temporally disorganized and irregular sleep and waking behavior, where sleep is broken into three or more short blocks in the period of 24 hours, with marked day-to-day variability of sleep and wake periods and with no circadian or ultradian pattern.

An inherited disorder of organic acid metabolism that is characterized by neurologic symptoms and ketoacidosis.

International Stroke Trial

interesting transcript 15 (gene on short arm of chromosome 4 implicated in Huntington disease)

intravenous immunoglobulin

intravenous pyelogram

A rare genetic disorder characterized by distinctive malformations of the head and facial (craniofacial) area and abnormalities of the feet. The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis); unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited as an autosomal dominant trait.

Clonic seizures with spread to adjacent muscle groups.

The tympanic branch of the glossopharyngeal nerve.

JC virus

juvenile neuronal ceroid lipofuscinosis

A rare genetic disorder characterized by distinctive malformations of the head and facial (craniofacial) area and abnormalities of the feet. The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis); unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited as an autosomal dominant trait.

A sharp, negative EEG wave followed by a high-voltage slow wave. The complex duration is at least 0.5 seconds, and may be accompanied by a sleep spindle. K complexes occur spontaneously during NREM sleep, and begin and define stage 2 sleep. They are thought to be evoked responses to internal stimuli. They can also be elicited during sleep by external (particularly auditory) stimuli.

A sharp, negative EEG wave followed by a high-voltage slow wave. The complex duration is at least 0.5 seconds, and may be accompanied by a sleep spindle. K complexes occur spontaneously during NREM sleep, and begin and define stage 2 sleep. They are thought to be evoked responses to internal stimuli. They can also be elicited during sleep by external (particularly auditory) stimuli.

Serum potassium

A K complex followed by several seconds of alpha rhythm; a type of microarousal.

A reliable, validated scale used by clinicians to assess patient functional status that was developed in the oncology patient population. Scoring ranges from 100 (normal, without symptoms or signs of illness, full function) to 0 (dead).

Dryness of the conjunctiva and cornea.

Formation of ketone bodies.

A condition resulting from the buildup of ketone bodies when lipids are metabolized.

The process in which a progressively increased seizure response occurs to a stimulus that initially is insufficient to induce a seizure and eventually results in seizures independent of the stimulus.

A congenital malformation in which the skull bones join to from three lobes. The condition may also be associated with hydrocephalus and facial and skeletal deformities. Also known as kleeblattsch.

A congenital malformation in which the skull bones join to from three lobes. The condition may also be associated with hydrocephalus and facial and skeletal deformities. Also known as kleeblattsch.

A congenital malformation in which the skull bones join to from three lobes. The condition may also be associated with hydrocephalus and facial and skeletal deformities. Also known as kleeblattsch.

Michaelis' constant

Energy-producing cycle that takes place in the cell's mitochondria.

Kearns-Sayre syndrome

Disease of unknown etiology and genetic basis, presenting after the first 6 months of life with nonspecific developmental delay, ataxia, mental retardation, dysarthria, spastic paresis, macrocephaly by exam, subcortical leukoencephalopathy and cerebellar atrophy by MRI, and increased L-2 stereoisomer of hydroxyglutaric acid in urine, plasma, and CSF by gas chromatography.

levodopa

L-threo-dihydroxyphenylserine

liver-type fatty acid-binding protein

L1 cell adhesion molecule

Small, deep cerebral infarct, which in the chronic state is represented by an irregular, small cystic lesion in the deep brain, brainstem, or cerebellum.

Small, deep cerebral infarct, which in the chronic state is represented by an irregular, small cystic lesion in the deep brain, brainstem, or cerebellum.

Gait apraxia, with gait disturbance characterized by appearance of feet glued to the floor.

An autosomal recessive progressive myoclonic epilepsy associated with the triad of severe myoclonus, generalized epilepsy, and dementia and pathologically with Lafora body (PAS-positive) inclusions seen throughout the nervous system.

Incomplete eyelid closure.

lymphokine-activated killer

A rare condition in which there is premature unilateral or bilateral fusion of the lambdoid suture. Also known as occipital plagiocephaly.

labyrinthine aplasia, microtia, and microdontia

Autosomal recessive form of syndrome deafness with key clinical features of labyrinthine aplasia, microtia, and microdontia due to homozygous mutations in the fibroblast growth factor 3 (FGF3) gene. LAMM syndrome is one cause of Michel deformity.

Can be divided into (1) adductor spasmodic dysphonia, which is the result of the vocal cords' hyperadducting, creating a strained, choked voice, and (2) abductor spasmodic dysphonia, resulting from the vocal cords' being pulled apart, creating a weak, breathy voice.

Congenital syphilis clinically manifested after 2 years of age.

Epileptic seizures that result from head trauma but occur more than 1 month after the head injury.

Epileptic seizures that result from head trauma but occur more than 1 month after the head injury.

Refers to persistent symptoms present more than 6 months after an accident.

A trigger point that is clinically quiescent with respect to spontaneous pain: it is painful only when palpated.

A trigger point that is clinically quiescent with respect to spontaneous pain: it is painful only when palpated.

lipoma of the corpus callosum

lymphocytic choriomeningitis virus

ligase chain reaction

long-chain acyl-CoA synthetase

Dose needed to kill 50% of test subjects.

lactate dehydrogenase

low-density lipoprotein

Insomnia based on having acquired a habit of excessive concern with one's ability to sleep or a conditioned arousal to the stimuli surrounding sleep.

A maternally inherited optic neuropathy typically characterized by decreased acuity, a visual field defect involving the blind spot and central fixation (ie, cecocentral scotoma), and a characteristic pseudoedema of the optic disc that does not leak on fluorescein angiography.

A maternally inherited optic neuropathy typically characterized by decreased acuity, a visual field defect involving the blind spot and central fixation (ie, cecocentral scotoma), and a characteristic pseudoedema of the optic disc that does not leak on fluorescein angiography.

Face of a leprosy patient resembling the face of a lion.

longitudinally extensive transverse myelitis

leucine

Several areas of hypopigmented skin.

Several areas of hypopigmented skin.

White pupillary reflexes

Several areas of hypopigmented skin.

Disorder of cerebral white matter producing neurologic dysfunction.

Disorder of cerebral white matter producing neurologic dysfunction.

Upper eyelid excursion from extreme downgaze to extreme upgaze.

leucine-rich glioma inactivated protein 1

luteinizing hormone

luteinizing hormone-releasing hormone

leukemia inhibitory factor

The periodic pattern of light (artificial or natural) alternating with darkness.

The periodic pattern of light (artificial or natural) alternating with darkness.

Dystonia involving either the arm or leg. The majority of patients with dystonia of the limbs have a task-specific, or action-induced, disorder. At rest, most patients have no problem, but when patients write (writer's cramp), play an instrument (musician's cramp), or do other tasks, the dystonia becomes apparent. Similarly, foot dystonia often is present only when the patient attempts to walk.

Loss of the ability to make precise, fine, and individual finger movements.

linear accelerator

late infantile neuronal ceroid lipofuscinosis

Important lipid-protein compounds with spherical hydrophobic core of triglycerides or cholesterol esters surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins. Classified according to their density: chylomicrons, VLDLD, LDL, HDL.

Nodular clump of iris pigment cells, iris hamartoma.

Cerebral malformation in which typical gyri and sulci do not form ("smooth brain").

Listerial infection of the brainstem.

low-molecular-weight heparinoid

locked nucleic acid

Dementing disorder associated with predominately frontal and/or temporal lobe atrophy with involvement of both gray and white matter.

Bleeding into the parenchyma of the brain in one of the major lobes of the brain.

Bleeding into the parenchyma of the brain in one of the major lobes of the brain.

Reading systems based on meaningful units (morphemes, words).

Also known as semantic memory or remote memory, this memory system stores and retrieves events from the past (eg, personal history, public events, and vocabulary). It is probably stored diffusely in the cerebral cortex.

late-onset Pompe disease

lumbar puncture

lumbosacral radiculoplexus neuropathy

lysergic acid diethylamide

leukotriene

Extrusion of nuclear material through a weakened annulus fibrosis.

Extrusion of nuclear material through a weakened annulus fibrosis.

Involvement of the lumbosacral roots to produce radicular symptoms and signs.

An antiphospholipid antibody that nonspecifically prolongs the activated partial thromboplastin time or other in vitro coagulation assays.

A test of motoric executive function in which the patient must learn and reproduce a sequence of hand positions (eg, flat-fist-edge).

left ventricular ejection fraction

left ventricular thrombi

Lymphocytes from previously exposed individuals will proliferate in response to antigens to which they have been exposed. This is an in vitro test that is felt to represent an in vivo T-cell response.

An arena virus and a common human pathogen that can cross the placenta and act as a neuroteratogen.

Lysine

The lysosomal trafficking gene, the gene for Chediak-Higashi disease.

The protein product of Lyst gene.

meta-chloro-phenyl-piperazine

myoadenylate deaminase

myelin associated glycoprotein

melanoma antigen-like gene 2

A technique that uses computer reconstruction of magnetic resonance angiography images to create images that display both vascular and other anatomic tissues simultaneously.

Mycobacterium avium intracellular

A series of measurements of the interval from "lights out" to sleep onset that is utilized in the assessment of the ability to remain awake. Subjects are instructed to try to remain awake in a darkened room while in a semireclined position. Long latencies to sleep are indicative of the ability to remain awake. This test is most useful for assessing the effects of medication upon the ability to remain awake.

A series of measurements of the interval from "lights out" to sleep onset that is utilized in the assessment of the ability to remain awake. Subjects are instructed to try to remain awake in a darkened room while in a semireclined position. Long latencies to sleep are indicative of the ability to remain awake. This test is most useful for assessing the effects of medication upon the ability to remain awake.

The longest sleep episode that occurs on a daily basis. Typically the sleep episode dictated by the circadian rhythm of sleep and wakefulness; the conventional or habitual time for sleeping.

The longest sleep episode that occurs on a daily basis. Typically the sleep episode dictated by the circadian rhythm of sleep and wakefulness; the conventional or habitual time for sleeping.

Matrix-assisted laser desorption

A morphologic abnormality that arises because of an abnormal developmental process. A primary error in morphogenesis—for example, cleft lip.

A pattern of multiple defects resulting from a single primary malformation--for example, talipes and hydrocephalus can result from a lumbar neural tube defect.

A pattern of features, often with a unifying underlying cause, that arises from several different errors in morphogenesis (“syndrome” from the Greek “running together”).

methylazoxymethanol

muscle adenylic acid deaminase

This test is a non-parametric alternative to the unpaired t test and requires all the observations to be ranked as if they were from a single sample. The sum of the ranks in one group is calculated, and a p value is found from a table. The statistic U (number of all possible pairs of observations comprising one from each sample) is somewhat complicated, but it has the advantage that it is one of the few non-parametric tests that has a useful interpretation.

monoamine oxidase

monoamine oxidase inhibitor

Part of the spectrum of multiple sclerosis initially described by Marburg in 1906, which included examples of lesions with bands of preserved myelin and disrupted myelin.

Lacunar gait-gait apraxia, with gait disturbance characterized by appearance of feet glued to the floor.

Degeneration of the corpus callosum seen in individuals with alcoholism.

A class of algorithms for sampling from probability distributions based on constructing a Markov chain that has the desired distribution as its equilibrium distribution. Markov chain means that the description of the present state enables determination of future states through a probabilistic process. It is used in statistics to generate sequences of random numbers for depicting complicated desired probability distributions.

Autosomal recessive mucopolysaccharidosis caused by arylsulfate beta deficiency, with dermatan sulfate excreted in the urine. Hurler-like symptoms are seen, with coarse facial features, dysotosis multiplex, short stature, corneal clouding, hepatosplenomegaly, hearing loss, and normal intelligence. Life span is dependent on extent of cardiomyopathy and valvular disease. Also known as mucopolysaccharidosis VI and arylsulfate beta deficiency.

mental retardation, aphasia, shuffling gait, and adducted thumbs

mental retardation, aphasia, shuffling gait, and adducted thumbs

Multicentre Acute Stroke Trial-Europe

Multicentre Acute Stroke Trial-Italy

Seizures with swallowing automatisms originating in the frontal operculum.

Inheritance from mother to child, characteristic of disorders due to abnormalities of the mitochondrial genome.

matrin3

myelin basic protein

middle cerebral artery

medium-chain acyl-CoA dehydrogenase

X-linked recessive illness with a similar clinical syndrome to neuroacanthocytosis. It is characterized by the lack of the Kx red cell antigen.

L-methylmalonyl-coenzyme A mutase

minimally conscious state

medium-chain triglyceride

myoadenylate deaminase deficiency

minimal DiGeorge critical region

methylenedioxymethamphetamine

myalgic encephalomyelitis/chronic fatigue syndrome

muscle, eye, and brain disease

magnetoencephalography

A combination of blepharospasm and oromandibular dystonia.

mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome

mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome

mitochondrial epilepsy, myopathy, sensory ataxia

multiple endocrine neoplasia type 1

Inflammatory disease of the meninges and brain.

miniature endplate current

miniature endplate potential

myoclonus epilepsy with ragged-red fibers

A syndrome of temporal lobe epilepsy associated with hippocampal sclerosis, often surgically correctable.

An autosomal recessive disorder on chromosome 22 resulting in a deficiency of arylsulfatase A. There is an accumulation of sulfatide in the central and peripheral nervous system, which causes progressive spastic quadriparesis after initial weakness and hypotonia, posturing, behavioral changes, gallstones, peripheral neuropathy, optic atrophy, and seizures. The onset can occur in late infancy, adolescence, or adulthood.

A modified form of oxyhemoglobin found in the blood as adverse reaction to certain drugs.

A vitamin B-12-dependent enzyme that catalyzes the synthesis of methionine from homocysteine and 5-methyltetrahydrofolate.

A condition in which there is premature fusion of the metopic suture, resulting in a triangular shaped forehead. A bony ridge extends from the bridge of the nose to the upper part of the forehead, producing a prominent midline keel with lateral recession of the brows. From the frontal view, these patients typically have the appearance of hypotelorism or decreased distance between the eyes. Also known as trigonocephaly.

million electron volts

multifocal electroretinogram

A retroviral vector

monoclonal gammopathy of unknown significance

microhemagglutination assay for antibody to Treponema pallidum

major histocompatibility complex

3-methoxy-4-hydroxypheylglycol

MIB1 labeling index

metaiodobenzylguanidine

methyl-isobutyl ketone

The concentration of the substrate at which half the true maximum velocity of an enzyme-catalyzed reaction is achieved.

Labyrinthine aplasia

Atrophy of the mid-brain tegmentum with relative preservation of the tectum and cerebral peduncles seen on axial T1-MRI in progressive supranuclear palsy.

Atrophy of the mid-brain tegmentum with relative preservation of the tectum and cerebral peduncles seen on axial T1-MRI in progressive supranuclear palsy.

Small jaw

Congenitally small globe

Inflammation of small-sized arteries, arterioles, capillaries, and venules without granuloma formation, involving kidney, lung, skin, and peripheral nerve, with infrequent involvement of other organs.

An episode lasting up to 30 seconds during which external stimuli are not perceived. The polysomnogram suddenly shifts from waking characteristics to sleep. Microsleeps are associated with excessive sleepiness and automatic behavior.

A record of the times, amounts, and nature of fluids taken in orally and excreted through urination, usually recorded for a week.

Mendelian Inheritance in Man

A childhood myopathy beginning soon after birth, characterized by hypotonia usually following a benign, nonprogressive course with typical muscle biopsy changes demonstrated by defects in enzyme histochemistry and sarcomeres out of register by electron microscopy. The diagnosis of minicore myopathy should be suspected in patients with a rigid spine or rapidly progressive kyphoscoliosis in adolescence.

A form of multifocal myoclonus, characterized by small jerks in different locations.

MicroRNAs (miRNAs), small and mostly non-coding RNA gene products, are molecules derived from larger segments of "precursor" RNA that are found in all diverse multicellular organisms. MiRNAs are 21-25 nucleotide transcripts that repress gene function through interactions with target mRNAs. Molecular diagnostic technologies have been used to study miRNA gene expression and implicate miRNAs in viral disease, neurodevelopment, and cancer. Apart from their diagnostic value, miRNAs are also being used for development of therapeutics.

A condition in which patients are extremely compliant and will assume changes in posture with only slight effort from an examiner.

Machado-Joseph disease

Spinocerebellar ataxia type 3 (Machado-Joseph disease)

makorin ring finger protein

Lysosomal enzyme deficiency resulting from a defective posttranslational modification. Also known as mucolipidosis II.

Lysosomal enzyme deficiency resulting from a defective posttranslational modification. Also known as mucolipidosis III.

Deficiency of a ganglioside-specific neuraminidase.

multiplex ligation-dependent probe amplification

methylmalonic acid (or acidemia)

Minnesota Multiphasic Personality Inventory

Mini-Mental State Examination

methyl-n-butyl ketone

motor neuron degeneration

mitochondrial neurogastrointestinal encephalomyopathy

Fasting plasma total homocysteine concentration between 15 micromolars and 100 micromolars.

myelin oligodendrocyte glycoprotein

An incomplete partition of cochlea.

A monoclonal antibody (MAb) is an antibody made from a single clone (hybridoma) of white blood cells.

Abnormal proteins produced in the body that appear as a single band on serum protein electrophoresis.

Abnormal proteins produced in the body that appear as a single band on serum protein electrophoresis.

Excessive production of identical immunoglobulins derived from transformation of single B cell clones.

Simultaneous or sequential involvement of many noncontiguous nerves by a pathological process.

mechlorethamine, Oncovin, procarbazine, prednisone

A concavity due to focal atrophy of the lateral margin of the midbrain tegmentum seen on axial T2w-MRI in multiple system atrophy and progressive supranuclear palsy.

A concavity due to focal atrophy of the lateral margin of the midbrain tegmentum seen on axial T2w-MRI in multiple system atrophy and progressive supranuclear palsy.

Two biochemically distinct but clinically similar autosomal recessive forms of mucopolysaccharidoses, with both keratan sulfate and chondroitin sulfate excreted in the urine. The enzymatic defects are of galactosamine-6-sulfate sulfatase and beta-galactosidase, respectively. Skeletal and nervous system defects include dwarfism, odontoid hypoplasia, mild corneal clouding, kyphosis, valvular heart disease, hearing loss, atlantoaxial subluxation, waddling gait, and normal intelligence. Also known as mucopolysaccharidosis IV.

Two biochemically distinct but clinically similar autosomal recessive forms of mucopolysaccharidoses, with both keratan sulfate and chondroitin sulfate excreted in the urine. The enzymatic defects are of galactosamine-6-sulfate sulfatase and beta-galactosidase, respectively. Skeletal and nervous system defects include dwarfism, odontoid hypoplasia, mild corneal clouding, kyphosis, valvular heart disease, hearing loss, atlantoaxial subluxation, waddling gait, and normal intelligence. Also known as mucopolysaccharidosis IV.

The unpredictable motor response to levodopa in patients with chronic Parkinson disease.

Failure to sustain voluntary muscular contraction to command for periods too brief to result from muscle fatigue.

Failure to mobilize a body part spontaneously, but with intact self-mobility when the patient is commanded to attend to or to move the part; must be distinguished from paralysis.

Repetitive abrupt, sudden, brief isolated movements.

Repetitive abrupt, sudden, brief isolated movements.

A body movement associated with an EEG pattern of arousal or a full awakening; a sleep scoring variable.

A body movement associated with an EEG pattern of arousal or a full awakening; a sleep scoring variable.

The term used in sleep record scoring to denote when EEG and EOG tracings are obscured for more that half the scoring epoch because of movement. It is only scored when the preceding and subsequent epochs are in sleep.

microscopic polyangiitis

myeloperoxidase

1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine

An autosomal recessive mucopolysaccharide caused by deficiency of alpha-L-iduronidase. Characterized by excretion of dermatan sulfate and heparan sulfate in the urine. Onset is usually around 1 year with symptoms of progressive mental deterioration, gargoyle facies, kyphosis, dwarfism, dysotosis multiplex, hepatosplenomegaly, and cardiac defects. Death occurs by 10 years, usually by respiratory infection or heart failure. Also known as mucopolysaccharidosis I-H.

Intermediate autosomal recessive syndrome between mucopolysaccharidosis I-H and mucopolysaccharidosis I-S. Caused by deficiency of alpha-L-iduronidase. Symptoms consist of hearing loss, visual impairment, dysotosis multiplex pachymeningitis cervicalis, and little or no intellectual dysfunction. Also known as mucopolysaccharidosis I-H/S.

Relatively mild form of mucopolysaccharidosis I, with the characteristic autosomal recessive enzymatic defect of alpha-L-iduronidase. As with other mucopolysaccharidosis I syndromes dysotosis multiplex, joint abnormalities, corneal clouding, hearing loss, valvular disease, and obstructive airway disease are seen; but intelligence, stature, and life span are typically normal. Also known as mucopolysaccharidosis I-S, and previously as mucopolysaccharidosis V.

Autosomal recessive biochemically distinct but clinically similar diseases. These syndromes are characterized by normal facial features and stature, absence of corneal clouding, mild hepatosplenomegaly, rapidly progressive mental retardation between 2 and 10 years, hearing loss, seizures, behavioral problems, and usually death before 20 years. Types A-D have enzymatic defects of N-sulfoglucosamine sulfohydrolase (heparan-N-sulfatase), N-alpha-acetylglucosaminidase (alpha-N-acetyl-lucosaminidase), heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase (acetyl-CoA:alpha-glucosaminide acetyltransferase), and N-acetylglucosamine-6-sulfatase (N-acetylglucosamine-beta-sulfatase), respectively, each causing excretion of heparan sulfate in the urine. Also referred to as mucopolysaccharidosis III A-D.

Autosomal recessive mucopolysaccharidosis caused by arylsulfate beta deficiency, with dermatan sulfate excreted in the urine. Hurler-like symptoms are seen, with coarse facial features, dysotosis multiplex, short stature, corneal clouding, hepatosplenomegaly, hearing loss, and normal intelligence. Life span is dependent on extent of cardiomyopathy and valvular disease. Also known as mucopolysaccharidosis VI and arylsulfate beta deficiency.

1-methyl-4-phenyl-1,2,3,6-propionoxypiperidine

magnetic resonance angiography

medical research council

magnetic resonance-guided focused ultrasound

magnetic resonance imaging

magnetic resonance neurography

messenger ribonucleic acid

magnetic resonance spectroscopy

A technique that uses computer reconstruction of magnetic resonance angiography images to create images that display both vascular and other anatomic tissues simultaneously.

multiple system atrophy

mitochondrial spinocerebellar ataxia with epilepsy

multiple sleep latency test

maple syrup urine disease

mixed transcortical aphasia

Mitochondrial deoxyribonucleic acid. Human mtDNA is a maternally inherited 16,569 base pair genome encoding 37 genes: 22 transfer RNA (tRNA) genes, 2 ribosomal RNA (rRNA) genes, and 13 genes coding for protein subunits of respiratory chain complexes I, III, IV, and V.

methylene tetrahydrofolate reductase

mesial temporal lobe epilepsy

mesial temporal lobe epilepsy associated with hippocampal sclerosis

myotubularin gene in Xq28

myotubular myopathy, X-linked

1-methyl-4-phenyl-1,2,3,6-tetrahydro pyridine

magnetization transfer ration

motor unit action potential

motor unit action potentials

Cherry-red spot myoclonus syndrome due to a primary neuraminidase defect. Type I is normosomatic; type II is dysmorphic. Also known as mucolipidosis I.

Lysosomal enzyme deficiency resulting from a defective posttranslational modification. Also known as mucolipidosis II.

Lysosomal enzyme deficiency resulting from a defective posttranslational modification. Also known as mucolipidosis III.

Deficiency of a ganglioside-specific neuraminidase.

Heteropolysaccharides usually containing two types of monosaccharide unit, of which one has an acidic group. They occur in complexes with specific proteins called mucins, or mucoproteins, to form glycoproteins, eg, dermatan sulfate, heparan sulfate, chondroitin sulfate.

Heteropolysaccharides usually containing two types of monosaccharide unit, of which one has an acidic group. They occur in complexes with specific proteins called mucins, or mucoproteins, to form glycoproteins, eg, dermatan sulfate, heparan sulfate, chondroitin sulfate.

An autosomal recessive mucopolysaccharide caused by deficiency of alpha-L-iduronidase. Characterized by excretion of dermatan sulfate and heparan sulfate in the urine. Onset is usually around 1 year with symptoms of progressive mental deterioration, gargoyle facies, kyphosis, dwarfism, dysotosis multiplex, hepatosplenomegaly, and cardiac defects. Death occurs by 10 years, usually by respiratory infection or heart failure. Also known as mucopolysaccharidosis I-H.

Intermediate autosomal recessive syndrome between mucopolysaccharidosis I-H and mucopolysaccharidosis I-S. Caused by deficiency of alpha-L-iduronidase. Symptoms consist of hearing loss, visual impairment, dysotosis multiplex pachymeningitis cervicalis, and little or no intellectual dysfunction. Also known as mucopolysaccharidosis I-H/S.

Relatively mild form of mucopolysaccharidosis I, with the characteristic autosomal recessive enzymatic defect of alpha-L-iduronidase. As with other mucopolysaccharidosis I syndromes dysotosis multiplex, joint abnormalities, corneal clouding, hearing loss, valvular disease, and obstructive airway disease are seen; but intelligence, stature, and life span are typically normal. Also known as mucopolysaccharidosis I-S, and previously as mucopolysaccharidosis V.

Autosomal recessive biochemically distinct but clinically similar diseases. These syndromes are characterized by normal facial features and stature, absence of corneal clouding, mild hepatosplenomegaly, rapidly progressive mental retardation between 2 and 10 years, hearing loss, seizures, behavioral problems, and usually death before 20 years. Types A-D have enzymatic defects of N-sulfoglucosamine sulfohydrolase (heparan-N-sulfatase), N-alpha-acetylglucosaminidase (alpha-N-acetyl-lucosaminidase), heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase (acetyl-CoA:alpha-glucosaminide acetyltransferase), and N-acetylglucosamine-6-sulfatase (N-acetylglucosamine-beta-sulfatase), respectively, each causing excretion of heparan sulfate in the urine. Also referred to as mucopolysaccharidosis III A-D.

Two biochemically distinct but clinically similar autosomal recessive forms of mucopolysaccharidoses, with both keratan sulfate and chondroitin sulfate excreted in the urine. The enzymatic defects are of galactosamine-6-sulfate sulfatase and beta-galactosidase, respectively. Skeletal and nervous system defects include dwarfism, odontoid hypoplasia, mild corneal clouding, kyphosis, valvular heart disease, hearing loss, atlantoaxial subluxation, waddling gait, and normal intelligence. Also known as mucopolysaccharidosis IV.

A newly described deficiency of hyaluroglucosaminidase 1 for the major glycosaminoglycan hyaluronan. Previously thought to be incompatible with life, the primary areas of impact are joints (periarticular soft tissue masses, acetabular erosions) and short stature, with no apparent impact on cognitive neurodevelopment. The gene HYAL1 encodes a specific lysosomal hyaluronidase with 2 specific allele mutations having been indentified. The existence of 2 other genes, HYAL2 and HYAL3 would therefore predict the existence of other hyaluroglucosaminidase deficiency disorders.

Autosomal recessive mucopolysaccharidosis caused by arylsulfate beta deficiency, with dermatan sulfate excreted in the urine. Hurler-like symptoms are seen, with coarse facial features, dysotosis multiplex, short stature, corneal clouding, hepatosplenomegaly, hearing loss, and normal intelligence. Life span is dependent on extent of cardiomyopathy and valvular disease. Also known as mucopolysaccharidosis VI and arylsulfate beta deficiency.

Autosomal recessive mucopolysaccharidosis caused by a deficiency in beta-glucuronidase with heparan sulfate and chondroitin sulfate excreted in the urine. Hurler-like features are seen including dysotosis multiplex, hepatosplenomegaly, and short stature. Intelligence ranges from severely impaired to normal. Also known as mucopolysaccharidosis VII.

Notched molars.

Notched molars.

Dementia due to cerebrovascular disease.

Pertaining to more than one sensory modality.

A series of measurements of the interval from "lights out" to sleep onset that is utilized in the assessment of excessive sleepiness. Subjects are allowed a fixed number of opportunities to fall asleep during their customary awake period. Excessive sleepiness is characterized by short latencies. Long latencies are helpful in distinguishing physical tiredness or fatigue from true sleepiness.

A series of measurements of the interval from "lights out" to sleep onset that is utilized in the assessment of excessive sleepiness. Subjects are allowed a fixed number of opportunities to fall asleep during their customary awake period. Excessive sleepiness is characterized by short latencies. Long latencies are helpful in distinguishing physical tiredness or fatigue from true sleepiness.

A series of measurements of the interval from "lights out" to sleep onset that is utilized in the assessment of excessive sleepiness. Subjects are allowed a fixed number of opportunities to fall asleep during their customary awake period. Excessive sleepiness is characterized by short latencies. Long latencies are helpful in distinguishing physical tiredness or fatigue from true sleepiness.

An autosomal recessive disorder with deficiency of arylsulfatases A, B, and C and several other sulfatases needed for sulfatide and mucopolysaccharide metabolism. Symptoms are those of severe metachromatic leukodystrophy with mucopolysaccharidosislike features. Psychomotor delay, coarse facial features, hepatosplenomegaly, bony abnormalities, and ichthyosis become apparent within the first 2 years of life.

muscle specific kinase

A series of measurements of the interval from "lights out" to sleep onset that is utilized in the assessment of the ability to remain awake. Subjects are instructed to try to remain awake in a darkened room while in a semireclined position. Long latencies to sleep are indicative of the ability to remain awake. This test is most useful for assessing the effects of medication upon the ability to remain awake.

A minor protein constituent of peripheral nerve myelin.

Major membrane protein of peripheral nerve myelin that mediates adhesion and compaction between and within myelin lamellae and between myelin and the axon.

Causing destruction of myelin.

Inflammatory disease of the spinal cord.

Spinal cord dysfunction.

A prolonged state of relentless spontaneous generalized or multifocal myoclonus of predominantly cortical origin. Myoclonic jerks must occur either (1) at least once every 10 seconds for longer than 10 minutes or (2) at least once a minute for longer than 30 minutes.

A disorder characterized by a gross failure of the breakdown of glycogen to lactic acid.

A group of agonist and antagonist muscles, which function together as a unit because they share common spinal reflex responses.

A disease named for its principal manifestations in skeletal muscle: myotonia-the sustained contraction of muscle in response to electrical or percussive stimuli-and dystrophy-the progressive loss of skeletal muscle with fibrosis and fatty infiltration. It is inherited as an autosomal dominant trait with extremely variable penetrance. The most constant feature is the extreme variation of clinical expression between multiple members of each pedigree. The apparent worsening of the disease in subsequent generations, or anticipation, is characteristic. The occurrence of a congenital form of myotonic dystrophy, inherited by either sex but only through their mother, is another manifestation of the disease. With the discovery of the inherited variable trinucleotide repeat, some of these genetic phenomena are being explained, but the mysteries of myotonic dystrophy are still unfolding.

Severe hypothyroidism associated with a doughy induration of the skin

The process in which a lipid-linked oligosaccharide is preformed in the ER, transferred to target proteins (onto asparagines), and further modified whence protein-bound.

A contaminating byproduct of meperidine synthesis that can induce parkinsonism in human and nonhuman animals (as the result of dopaminergic neuronal cell death) when injected intravenously. The serendipitous discovery of this selectively neurotoxic compound has allowed development of animal models of parkinsonism.

aspartate (D) substituted for asparagine (N) at codon 314 of the galactose-1-phosphate uridyltransferase complementary deoxyribonucleic acid

N-acetylaspartic acid

nicotinamide adenine dinucleotide

reduced form of nicotinamide adenine dinucleotide

nicotinamide adenine dinucleotide dehydrogenase tetrazolium reductase

reduced form of nicotinamide adenine dinucleotide phosphate

N-acetylglutamate synthetase

nonarteritic anterior ischemic optic neuropathy

neuronal apoptosis inhibitory protein

Particulate matter on nanoscale, ie, at the level of atoms, molecules, and supramolecular structures. At least 1 characteristic dimension of these particles is measured in nanometers (a nanometer is one-billionth of a meter). Nanoparticles occur in nature and can also be created in the laboratory. Applications include molecular diagnostics, drug delivery, and therapeutics.

Neurogenic weakness, ataxia, retinitis pigmentosa

nucleic acid sequence based amplification

National Acute Spinal Cord Injury Study

Excretion of sodium in urine.

neurodegeneration with brain iron accumulation

National Cancer Institute

neuronal ceroid lipofuscinosis

Northern California Oncology Group

nonconvulsive status epilepticus

nerve conduction velocity

neurally differentiated EC-cell derived factor

nuclear deoxyribonucleic acid

The apparent sudden and unexpected death of an infant, who then survives spontaneously or with medical help.

The apparent sudden and unexpected death of an infant, who then survives spontaneously or with medical help.

Reading disorder characterized by failure to identify the initial or left-most portion of a string of letters or words in a text. Neglect ataxia corresponds to spatial alexia.

Characteristic viral inclusions in the cytoplasm of rabies virus-infected neurons.

Characteristic viral inclusions in the cytoplasm of rabies virus-infected neurons.

A congenital hereditary disorder of muscle that usually causes symptoms beginning in infancy or early childhood. Prominent features include facial diplegia, severe hypotonia, and generalized weakness that is often nonprogressive. Patients may die in infancy from respiratory failure or may survive into adulthood with moderate restrictive lung disease. The hallmark of the disorder is the histopathological appearance of "rods" in myofibers, usually intramyofibrillar but occasionally intranuclear, for which the pathogenesis remains unknown. Congenital muscle fiber-type disproportion or massive type I fiber predominance is an associated finding in the muscle biopsy.

"Words" that previous to a cerebral injury did not exist in the patient's vocabulary or culture.

"Words" that previous to a cerebral injury did not exist in the patient's vocabulary or culture.

Refers to all seizure phenomena occurring in the neonatal period.

Refers to all seizure phenomena occurring in the neonatal period.

Embryonic tissue formed in the dorsal midline of the neural tube during its closure, which later separates from the neural tube. The cells derived from the neural crest migrate bilaterally to different sites in the body.

Pain in the distribution of a nerve or nerves.

The common or "vasovagal" faint characterized as an apparent dissociation between the vasodepressor (vascular) and bradycardic (vagally-mediated) components.

The mildest form of peripheral nerve injury that produces an incomplete and transient loss of function that spontaneously recovers within hours to months of injury.

Inflammation of a nerve or nerves.

Protein product of gene on chromosome 17 which is defective in neurofibromatosis type 1.

Antipsychotic agent.

A peripheral nerve lesion in which the nerve itself remains grossly intact despite a variable amount of internal fascicular disruption.

Implies the displacement (movement or migration) of newly generated neurons from their birthplaces around the ventricular cavity in the central nervous system where most neurons are generated from the primitive neuroepithelial germinal layer to their definitive destinations (eg, the cerebral cortex layers). This phenomenon of neuronal migration in the developing telencephalon is assisted by a system of primitive and immature glial cells known as radial glial fibers whose surfaces provide a guiding role to migrating neurons.

Pain typically resulting from damage to the peripheral nerve, the dorsal root ganglion, dorsal root, or the central nervous system.

Daily headache arising within a few days without a gradual increase in headache frequency.

neurofibromatosis type 1

neurofibromatosis type 2

nocturnal frontal lobe epilepsy

nerve growth factor

National Health and Nutrition Examination Survey

non-Hodgkin lymphoma-central nervous system

National Institute of Allergy and Infectious Disease

Neonatal intrahepatic cholestasis caused by citrin deficiency

National Institute of Health Stroke Scale

Nothing by mouth

Neuroepidemiology Branch of the National Institute of Neurological Diseases and Stroke (NINDS) and the Association Internationale pour la Recherche et L'Enseignement en Neurosciences (AIREN)

A nerve injury-induced protein

non-imprinted in Prader-Willi/Angelman loci

N-methyl-D-aspartate

N-methyl-D-aspartate receptor

nuclear magnetic resonance

non-nucleoside reverse transcriptase inhibitor

A very rare genetic disorder characterized by abnormalities of the craniofacial area, distinctive malformations of the fingers and toes, and additional physical abnormalities. Also known as Pfeiffer syndrome, this disorder is generally accepted to be the same disorder as Noack Syndrome (Acrocephalopolysyndactyly Type I). The Acrocephalosyndactyly disorders are a group of very rare genetic disorders characterized by premature closure of the cranial sutures between certain bones of the skull, causing the top of the head to appear abnormally pointed, and webbing or fusion of certain fingers and/or toes.

A very rare genetic disorder characterized by abnormalities of the craniofacial area, distinctive malformations of the fingers and toes, and additional physical abnormalities. Also known as Pfeiffer syndrome, this disorder is generally accepted to be the same disorder as Noack Syndrome (Acrocephalopolysyndactyly Type I). The Acrocephalosyndactyly disorders are a group of very rare genetic disorders characterized by premature closure of the cranial sutures between certain bones of the skull, causing the top of the head to appear abnormally pointed, and webbing or fusion of certain fingers and/or toes.

The neural process of encoding noxious stimuli.

Pain that arises from actual or threatened damage to non-neural tissue and is due to the activation of nociceptors.

A high-threshold sensory receptor of the peripheral somatosensory nervous system that is capable of transducing and encoding noxious stimuli.

Episodes of delirium and disorientation close to or during nighttime sleep; often seen in the elderly, and is indicative of organic central nervous system deterioration.

Respiratory distress that may be minimal during the day, but becomes quite pronounced during sleep.

The natural periodic cycle of penile erections that occur during sleep, typically associated with REM sleep. Preferred term: sleep-related erections.

The natural periodic cycle of penile erections that occur during sleep, typically associated with REM sleep. Preferred term: sleep-related erections.

Indicative of the typical "nighttime" or major sleep episode related to the circadian rhythm of sleep and wakefulness; the conventional or habitual time for sleeping.

EEG translation of a sustained condition of sleep stability.

Hydrocephalus due to structural obstruction of CSF circulation within the ventricular system, eg, colloid cyst of the third ventricle.

Blunt injury that does not result in laceration of dura or penetration of the cerebral tissue.

A standard method for analyzing the structure of DNA fragments. RNA is separated by electrophoresis, transferred to filters, and probed with complimentary sequences.

A standard method for analyzing the structure of DNA fragments. RNA is separated by electrophoresis, transferred to filters, and probed with complimentary sequences.

A standard method for analyzing the structure of DNA fragments. RNA is separated by electrophoresis, transferred to filters, and probed with complimentary sequences.

The gene on chromosome 19 that may be defective in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

A stimulus that is damaging or threatens damage to normal tissues.

normal-pressure hydrocephalus

neuropsychiatric systemic lupus erythematosus

The natural periodic cycle of penile erections that occur during sleep, typically associated with REM sleep. Preferred term: sleep-related erections.

negative predictive value

Non-rapid eye movement sleep state. The other major sleep state apart from REM sleep; comprises sleep stages 1-4, which constitute levels in the spectrum of NREM sleep "depth" or physiological intensity.

An interposition of NREM sleep, or a component of NREM sleep physiology (eg, elevated EMG, K complex, sleep spindle, delta waves), in REM sleep; a portion of NREM sleep not appearing in its usual sleep cycle position.

The NREM sleep portion of NREM-REM sleep cycle; such an episode consists primarily of sleep stages 3 and 4 early in the night and of sleep stage 2 later.

A stage of NREM sleep that occurs at sleep onset or that follows arousal from sleep stages 2, 3, 4, or REM. It consists of a relatively low-voltage EEG with mixed frequency, mainly theta activity and alpha activity of less than 50% of the scoring epoch. It contains EEG vertex waves and slow rolling eye movements; no sleep spindles, K complexes, or REMs. Stage 1 normally represents 4-5% of the major sleep episode.

A stage of NREM sleep characterized by the presence of sleep spindles and K complexes present in a relatively low-voltage, mixed-frequency EEG background; high-voltage delta waves may comprise up to 20% of stage 2 epochs; usually accounts for 45-55% of the major sleep episode.

A stage of NREM sleep defined by at least 20% and not more than 50% of the episode consisting of EEG waves less than 2 Hz and more than 75 'V (high-amplitude delta waves); a "delta" sleep stage; with stage 4, it constitutes "deep" NREM sleep, so-called slow wave sleep (SWS); often combined with stage 4 into NREM sleep stage 3/4 because of the lack of documented physiological differences between the two; appears usually only in the first third of the sleep episode; usually comprises 4-6% of total sleep time.

All statements concerning NREM sleep stage 3 apply to stage 4 except that high-voltage, EEG slow waves persist 50% or more of the epoch; NREM sleep stage 4 usually represents 12-15% of total sleep time. Sleepwalking, sleep terrors, and confusional arousal episodes generally start in stage 4 or during arousals from this stage. See Sleep Stage 3.

A period during sleep composed of an NREM sleep episode and the subsequent REM sleep episode; each NREM-REM sleep couplet is equal to one cycle. Any NREM sleep stage suffices as the NREM sleep portion of a cycle. An adult sleep period of 6.5-8.5 hours generally consists of four to six cycles. The cycle duration increases from infancy to young adulthood.

A period during sleep composed of an NREM sleep episode and the subsequent REM sleep episode; each NREM-REM sleep couplet is equal to one cycle. Any NREM sleep stage suffices as the NREM sleep portion of a cycle. An adult sleep period of 6.5-8.5 hours generally consists of four to six cycles. The cycle duration increases from infancy to young adulthood.

nucleoside reverse transcriptase inhibitor

non-steroidal anti-inflammatory drug

nominal standard dose

neurotrophin

neurotrophic factor

nontypeable H influenzae

A term applied to obese individuals who hypoventilate during wakefulness. Because the term can apply to several different disorders, it is discouraged from use.

A mild to moderate reduction on alertness, with increasing time spent in the sleep state.

A rare condition in which there is premature unilateral or bilateral fusion of the lambdoid suture. Also known as occipital plagiocephaly.

obsessive-compulsive disorder

A rare inherited disorder of metabolism, characterized by urine that turns black when exposed to air. Another characteristic is the development of arthritis in adulthood. Also known as ochronosis or homogentisic acid oxidase deficiency.

organic cation/carnitine transporter

Defects in visual explorations with preserved ability to move.

right eye

Pain on swallowing.

N-butlydeoxynojirimycin

osteogenesis imperfecta

orbital inflammatory syndrome

Decreased amount of blood in the body.

Immunogolublin G of different migratory properties demonstrated by protein electrophoresis of serum or CSF; bands contain identical antibodies produced by multiple clones.

Immunogolublin G of different migratory properties demonstrated by protein electrophoresis of serum or CSF; bands contain identical antibodies produced by multiple clones.

Brain cell that synthesizes myelin.

Brain cell that synthesizes myelin.

A polymer made of few nucleotides.

A polymer made of few nucleotides.

Genes associated with neoplastic proliferation following a mutation or perturbation in their expression. Various examples include growth hormones, receptors, G proteins, protein kinases, transcription factors, and cyclins.

Genes associated with neoplastic proliferation following a mutation or perturbation in their expression. Various examples include growth hormones, receptors, G proteins, protein kinases, transcription factors, and cyclins.

Concentric layers of proliferating Schwann cells, surrounding the axons of affected nerve fibers. Onion bulbs result from repeated cycles of demyelination and remyelination.

Concentric layers of proliferating Schwann cells, surrounding the axons of affected nerve fibers. Onion bulbs result from repeated cycles of demyelination and remyelination.

olivopontocerebellar atrophy

A type of clinical trial in which both the investigator and the patient know the identity of the medication.

The partial or complete inability to move the eye.

Negativistic, hostile, and defiant behavior typified by interpersonal problems involving stubborn, resistant behavior, arguing and testing of limits, not following directions, and verbal aggression.

Loss of optic nerve axons, usually resulting in a characteristic pallor of the optic disk.

Inflammation of the optic nerves and chiasm, characterized by demyelination.

Miniaturized fiberoptic electrodes that enable the continuous measurement of oxygen, carbon dioxide, and hydrogen ion.

Miniaturized fiberoptic electrodes that enable the continuous measurement of oxygen, carbon dioxide, and hydrogen ion.

A genetically and phenotypically heterogenous group of congenital disorders characterized by malformations of the mouth, face, and digits. Typical non-neuroanatomic manifestations include hypertrophic frenula, lingual hamartomas, cleft palate or lip, ocular hypertelorism, brachydactyly, polydactyly, and syndactyly. Associated malformations of the central nervous system are frequently present and psychomotor retardation is common. Porencephaly, hydrocephaly, ependymal cysts, hypothalamic hamartoma, heterotopic neuroglial rests, agenesis of the corpus callosum, cerebellar dysgenesis, and chorioretinal coloboma have been observed in patients with this condition. At least two genetic subtypes distinguished by X-linked dominant and autosomal recessive inheritance have been described, but significant phenotypic overlap exists between the two forms. Prognosis is highly variable and depends on the extent and severity of malformations. Patients with normal intelligence have been reported.

A genetically and phenotypically heterogenous group of congenital disorders characterized by malformations of the mouth, face, and digits. Typical non-neuroanatomic manifestations include hypertrophic frenula, lingual hamartomas, cleft palate or lip, ocular hypertelorism, brachydactyly, polydactyly, and syndactyly. Associated malformations of the central nervous system are frequently present and psychomotor retardation is common. Porencephaly, hydrocephaly, ependymal cysts, hypothalamic hamartoma, heterotopic neuroglial rests, agenesis of the corpus callosum, cerebellar dysgenesis, and chorioretinal coloboma have been observed in patients with this condition. At least two genetic subtypes distinguished by X-linked dominant and autosomal recessive inheritance have been described, but significant phenotypic overlap exists between the two forms. Prognosis is highly variable and depends on the extent and severity of malformations. Patients with normal intelligence have been reported.

Enlargement of certain organs in the body.

Dystonia involving the jaw, mouth, tongue, and other lower facial muscles.

Conducting impulses in the normal direction.

left eye

obstructive sleep apnea

obstructive sleep apnea syndrome

An optical illusion of motion of a visually fixated target, due to movement of the image across the retina.

A neoplastic disease of the plasma cell in the bone marrow that causes sclerosis of the bone.

ornithine transcarbamylase

Drop attack without warning, associated autonomic or neurologic symptoms, loss of consciousness, or post-ictal signs in patient with severe vestibular disease, usually due to Meniere disease.

The process by which ATP is formed as electrons are transferred from NADH or FADH2 to molecular oxygen (O2).

oxidative phosphorylation

A congenital abnormality of the skull in which the top of the head assumes a conical or pointed shape because of premature closing of the lambdoid and coronal sutures. Also known as acrocephaly.

Probability value

Probability value

protein zero

Gyral pattern consisting of few, unusually thick gyri.

primary angiitis of the central nervous system

arterial partial pressure of carbon dioxide

pulmonary artery diastolic pressure

phytanoyl-CoA alpha hydroxylase

N-(phosphonacetyl)-L-aspartate

Involves the soft palate, and may be irritating, cause dysphagia, and even result in an audible clicking sound.

Involves the soft palate, and may be irritating, cause dysphagia, and even result in an audible clicking sound.

Involves the soft palate, and may be irritating, cause dysphagia, and even result in an audible clicking sound.

A condition in which a phrase or word is repeated with increasing rapidity.

Visual perseveration or the recurrent appearance of a visual image after the stimulus has disappeared.

A reliable, validated scale correlated to the Karnofsky Performance Scale that can be used to estimate the prognosis of people with advanced cancer or life-threatening noncancer diagnoses and anticipate care needs if the illness worsens.

A procedure in which a lesion is made in the globus pallidus, most typically in the posteroventral portion of the internal globus pallidus.

placental alkaline phosphatase

pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections

Inadequate secretion of all pituitary hormones.

pediatric acute-onset neuropsychiatric syndrome

arterial partial pressure of oxygen

Optic disc edema secondary to elevated intracranial pressure.

A disorder in which a complaint of insomnia occurs without objective evidence of sleep disturbance.

Synonymous with REM sleep, which is the preferred term.

A subdural empyema located between the medial surface of the cerebral hemisphere and the flax cerebri

Error in writing letters (literal paragraphia) and words (verbal paragraphia).

A reading error consisting of a sound (phonemic or literal paralexia) or word (verbal paralexia) substitution.

Clinical form of rabies with early and prominent limb weakness.

Negative-strand, enveloped RNA virus.

Associated with a distant tumor relevant to the generation or perpetuation of the immune response.

Pertaining to abnormal speech distinguished by impaired sound or word selection.

Active resistance of any effort to examine or move a patient.

Abnormal sensation, such as burning, prickling, or formication, that is not typically painful.

Abnormal sensation, such as burning, prickling, or formication, that is not typically painful.

Respiratory distress and shortness of breath due to pulmonary edema, which appears suddenly and often awakens the sleeping individual.

Respiratory distress and shortness of breath due to pulmonary edema, which appears suddenly and often awakens the sleeping individual.

Clinical manifestation of a sudden, excessive, rapid, and localized electrical discharge by gray matter from a particular part of the brain. Consciousness may be intact ("simple partial") or impaired ("complex partial") during a partial seizure.

Purkinje cell cytoplasmic antibody type 1

Purkinje cell antibody 2

paraneoplastic cerebellar degeneration

pontocerebellar hypoplasia

proliferating cell nuclear antigen

primary central nervous system lymphoma

1-(2-chloroethyl)-3(2,6-dioxo-3-piperidyl)-1-nitrosourea

partial pressure of carbon dioxide

phencyclidine

polymerase chain reaction

procarbazine, CCNU (lomustine), vincristine

pulmonary capillary wedge pressure

parkinsonism-dementia-amyotrophic lateral sclerosis

parkinsonism dementia complex

pervasive developmental disorder

phosphodiesterase 4D gene

platelet-derived growth factor

Platelet-derived growth factor receptor

pyruvate dehydrogenase complex

post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (DlgA), and zo-1

pigment epithelium-derived factor

A form of release phenomena with vivid, usually colored visual images possessing all the qualities of true sensoral perception. The patients correctly identify the hallucinations and are aware of their unreality, unlike with true visual hallucinations.

progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy

Patients with clinical and imaging criteria compatible with Pelizaeus-Merzbacher disease, but without a mutation found in the proteolipid gene.

A disorder secondary to deficiency of nicotinic acid or tryptophan.

Infarction of the ventral part of the dorsal column or dorsal horn that extends over several adjacent segments of the spinal cord.

A syndromic form of autosomal recessive hearing loss with goiter and a partial defect in iodide organification, which is due to balletic mutations in the SLC26A4 gene on chromosome 7q. The SLC26A4 gene encodes pendrin, a multifunctional anion exchanger. Pendred syndrome is often associated with forms of otic capsule dysplasia, including Mondini deformity and large vestibular aqueduct syndrome.