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(Contributed by Dr. Wesley Kerr.)
Oct. 13, 2020
Anti-GD1b IgG or IgM antibodies are associated with acute or chronic ataxic neuropathy syndromes respectively, which may arise as acute postinfectious syndromes or as chronic paraproteinemia-associated syndromes. Sensory ataxic variants of Guillain Barré syndrome are often associated with anti-GD1b IgG antibodies.
Feb. 18, 2019
Seizures, cortical dysplasia, tumors, intellectual disability, autism, ADHD, and sleep disorders are all CNS manifestations of tuberous sclerosis complex, occuring in about 90% of patients. Cortical dysplasia is also common, manifesting as cortical tubers and lines of migration. It is an autosomal-dominant genetic disorder.
Aug. 24, 2021
Epilepsy & Seizures
Frontal lobe seizures are typically brief, nocturnal, and without loss of consciousness, and can have unusual manifestations such as hyperactive behavior. Seizure types include focal clonic seizures, asymmetric tonic seizures, hyperkinetic seizures, absence type seizures, and masticatory seizures.
Aug. 28, 2020
Neuropharmacology & Neurotherapeutics
Mar. 10, 2021
Childhood Degenerative & Metabolic Disorders
Globoid cell leukodystrophy is an autosomal recessive, rapidly progressive fatal disease when it occurs in infancy. The disease usually begins between the ages of 3 and 6 months with ambiguous symptoms, such as irritability or hypersensitivity to external stimuli, but soon progresses to severe mental and motor decline. Patients are initially hypertonic with hyperactive reflexes, but they later become flaccid and hypotonic.
Mar. 07, 2020
Cerebral folate deficiency can be produced by a specific transport defect resulting in decreased transport of folate across the blood-brain barrier at the choroid plexus. This may be caused by either folate receptor alpha deficiency resulting from mutations of the FOLR1 encoding gene with an autosomal-recessive pattern of transmission, or by production of blocking/binding autoantibodies. Patients may have developmental delay or regression, hypotonia, seizures, visual disturbances, and autistic features.
Oct. 21, 2020
Sep. 16, 2020