Idiopathic basal ganglia calcification …

Movement Disorders

Updated 01.12.2026
Released 06.25.2007
Expires For CME 01.12.2029

Idiopathic basal ganglia calcification

Authors: Arthur Thevathasan MD FRACP, Kanae J Nagao MBBS FRACP

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Editor: Robert Fekete MD

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Idiopathic basal ganglia calcification

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Introduction

Overview

Idiopathic basal ganglia calcification (IBGC), widely misrepresented as Fahr disease, is an inherited neuropsychiatric disorder characterized by bilateral and usually symmetrical calcifications predominantly in the basal ganglia, but also extending to the cerebellum, thalamus, and subcortical white matter. Although a large proportion of patients remain asymptomatic, parkinsonism and other movement disorders appear to be the most common clinical manifestations, followed by psychiatric symptoms, cognitive impairment, and ataxia. CT scan is considered more sensitive than MRI for detecting calcifications. In this article, the authors discuss the etiology, pathogenesis, genetics, classification, and clinical manifestations of idiopathic basal ganglia calcification. A comprehensive list of disorders causing secondary brain calcification is provided (hypoparathyroidism being the most common).

Key points

	• Idiopathic basal ganglia calcification may clinically manifest as movement disorders or cognitive and neuropsychiatric conditions. However, approximately one third of patients may be asymptomatic.
	• The term “idiopathic basal ganglia” calcification should be used if there are appropriate accompanying clinical symptoms, the calcifications are significant, or if a relevant genetic mutation has been identified, provided secondary causes of basal ganglia calcification have been excluded.
	• Idiopathic basal ganglia calcification is inherited in an autosomal dominant or recessive pattern, with seven causative genes identified. However, several cases occur de novo.
	• Head CT is the most sensitive imaging modality to assess for idiopathic basal ganglia calcification.

Historical note and terminology

Basal ganglia calcifications involving the striatum, pallidum, with or without deposits in the dentate nucleus, thalamus, and white matter have been reported in asymptomatic individuals and in a variety of neurologic conditions (66; 47; 77). Since the first reports of such calcifications, up to 35 descriptive terms have been used for the same disease. This has added to the confusion regarding the etiology and clinical manifestations of idiopathic basal ganglia calcification (47).

When basal ganglia calcifications are thought to be idiopathic (after appropriate search for secondary causes), the term idiopathic basal ganglia calcification (IBGC) is used. This was previously referred to as Fahr disease, but this eponym fell out of favor as Fahr was neither the first to describe the disorder nor did he contribute significantly to its understanding (47). As genetic underpinnings of idiopathic basal ganglia calcification have been identified, many authors have started using the term “primary familial” instead of “idiopathic” (80; 34; 81). Idiopathic basal ganglia calcification is typically inherited in an autosomal-dominant pattern, but if family history or genetic testing cannot be obtained, the term idiopathic may still be appropriate. Of note, incidental findings of basal ganglia calcification may be present in up to 20% of healthy people (these calcifications are typically punctate, confined to pallidum, and increase with age) (94). Therefore, the term idiopathic basal ganglia calcification should only be used if there are appropriate accompanying clinical symptoms, or the calcifications are significant or if a relevant genetic mutation has been identified. It is worth noting, however, that minor calcifications have been linked themselves to cerebrovascular disease (24).

Secondary brain calcification, conversely, has been reported in a variety of genetic, developmental, metabolic, infectious, and other conditions (see Table 1) (47). To avoid confusion the term “secondary” should be used to differentiate it from idiopathic basal ganglia calcification (76).

A historical description of basal ganglia calcification is provided by Manyam (47). Briefly, in 1850, Delecour first observed bilateral calcifications on brain histopathology from a 56-year-old man who had stiffness and weakness of lower extremities with tremor. In 1855, Bamberger described the histopathologic entity of calcifications in a woman who had mental retardation and seizures (07). It was only in 1930 that German Neuropathologist Karl Fahr described an 81-year-old man with a long history of dementia, “immobility without paralysis,” with pathologic findings of “rough granular cortex and calcifications in centrum semiovale and striatum” (23). Fahr’s name subsequently became associated with all forms of bilateral calcifications in the basal ganglia.

Given the hallmark of this disease is calcification of the basal ganglia, and the term “idiopathic basal ganglia calcification” is well established in the literature, as well as the OMIM registry, that will be the term used in this review.

Clinical manifestations

Presentation and course

Idiopathic basal ganglia calcification is a rare, inherited disorder that typically presents in the third to fifth decade (median onset 31 years) but may be seen in childhood and older age (58). Approximately 60% of cases are symptomatic (50; 58), with a greater amount of calcification seen in symptomatic compared to asymptomatic individuals (50).

The breakdown of symptomatic cases are as follows, based on two earlier reviews (50; 58):

	• Movement disorders (approximately 55% to 60% of symptomatic cases)
		- Parkinsonism, ataxia, chorea, tremor, dystonia, athetosis, orofacial dyskinesia, paroxysmal dyskinesias
	• Neuropsychiatric symptoms (approximately 50% to 70% of symptomatic cases)
		- Depression, psychosis, personality changes
	• Cognitive impairment (approximately 55%)
	• Others
		- Dysarthria, gait abnormalities, seizures, and migraines. However, it is unclear if migraines are incidental or related to the calcification.
		- Milder forms of calcification have been linked to cerebrovascular disease (24).

Patients with early onset (before 18 years of age) showed primarily psychiatric or cognitive signs, whereas those with later onset (greater than 53 years of age) exhibited movement disorders.

In 2021, the largest systematic review of 516 genetically confirmed cases was published, with clinical features specifically reported for each genetic mutation (06). Nearly one third of mutation carriers were asymptomatic. Of 349 affected patients, 27% showed only motor and 31% only nonmotor symptoms or signs, whereas the remaining 42% had a combination of both, with parkinsonism and speech disturbance again being the most common (06). Speech disturbance, in particular, was a characteristic presentation of the MYORG mutation (06).

There have been further case reports describing additional clinical presentations, such as paroxysmal kinesigenic and nonkinesigenic dyskinesia responsive to carbamazepine (21; 16; 55; 97) and stroke (96). Cases have also been linked with psychiatric presentations, such as isolated schizophrenia-like psychosis (25; 59; 54; 43), obsessive-compulsive symptoms (99), and impulse-control disorder (71), and adult-onset Tourettism (70).

The diagnosis of idiopathic basal ganglia calcification is supported by the following criteria (80):

	1. Bilateral calcification of the basal ganglia visualized on neuroimaging. Other brain regions may also be affected.
	2. Progressive neurologic dysfunction, generally including a movement disorder or neuropsychiatric manifestations. Age of onset is typically in the third to fifth decade, although this dysfunction may present in childhood or later in life.
	3. Absence of biochemical abnormalities and somatic features suggestive of a mitochondrial or metabolic disease or other systemic disorder.
	4. Absence of an infectious, toxic, or traumatic cause.
	5. Family history consistent with autosomal dominant inheritance (although sporadic and other familial cases have been described).

Prognosis and complications

Idiopathic basal ganglia calcification is characterized by usually progressive, but extremely variable course. Approximately a third of individuals with large calcification burden or idiopathic basal ganglia calcification gene carriers are asymptomatic (50; 58). The neurodegenerative evolution of the disease was suggested by two studies where imaging demonstrated development of cerebral atrophy in several affected patients (49; 40).

Clinical vignette

A 57-year-old, previously healthy man presented with memory loss, speech difficulty, and involuntary movements. The patient had no history of alcohol or any recreational drug usage. His childhood was uneventful, and he graduated from college at 23 years of age. He was working in an office until a year prior, when he began to experience memory problems and difficulty with calculations. He later began to have speech difficulty and involuntary movements. His neurologic examination revealed moderate dementia with a score of 17/30 on Mini-Mental Status Examination. Although he had moderate memory loss, other cognitive functions, including praxis, were intact. His speech was dysarthric. He had normal cranial nerve examination. He exhibited increased tone in his upper and lower extremities and choreoathetotic movements.

His complete blood count, serum electrolytes, vitamin B12, and hepatic and thyroid function tests were normal. Serum calcium was 9.4 mg/dL (normal values: 8.4 to 10.2 mg/dL) and phosphate was 4.0 mg/dL (normal values: 2.5 to 4.7 mg/dL). His parathyroid levels were normal, as were his CSF studies. Brain CT revealed symmetrical calcification of the basal ganglia, thalami, and dentate nuclei of the cerebellum. Twelve months later his cognitive functions declined further. The most striking deficits were found on tasks measuring executive functions. His behavior was now characterized by apathy, disinhibition, and increasing antisocial behavior.

Biological basis

Etiology and pathogenesis

	• Precise mechanisms for calcification in idiopathic basal ganglia calcification are unknown.
	• Multiple genetic studies have implicated phosphate homeostasis, blood-brain barrier integrity, or mitochondrial dysfunction as being central to the disease process.
	• There is emerging evidence that microangiopathy and microcalcification occur extracranially.

The precise mechanisms for calcification formation in idiopathic basal ganglia calcification are still unknown. However, its pathogenesis is linked to errors of phosphate metabolism, blood-brain barrier integrity, and pericyte maintenance.

Calcium is the major element present in idiopathic basal ganglia calcifications and it accounts for the radiological appearance of the disease. Other elements include mucopolysaccharides, traces of aluminum, arsenic, cobalt, copper, molybdenum, iron, lead, manganese, magnesium, phosphorus, silver, and zinc (57; 79). However, phosphate transport appears to be crucial because the gene most commonly associated with the disease (SLC20A2) encodes inorganic phosphate transporter PiT2 (100).

The precise mechanism of how calcification can subsequently lead to neurodegeneration and symptoms is also unclear.

Genetics and cell biology. Idiopathic basal ganglia calcification development may be sporadic or inherited with an autosomal dominant or autosomal recessive pattern, with the majority of cases being inherited dominantly (12). Age of onset, clinical presentation, and severity vary both between and within families (11; 66; 20).

As of 2024, a total of seven causative genes are known, with a distinct proportion of cases still lacking a genetic diagnosis due to the likely existence of undiscovered genes (12). Autosomal dominantly inherited cases are associated with mutations in four genes: Solute carrier 20 member 2 (SLC20A2) was the first gene identified (100). SLC20A2 and xenotropic and polytropic retrovirus receptor 1 (XPR1) (41) have been linked to phosphate metabolism. Platelet-derived growth factor B (PDGFB) (33) and platelet-derived growth factor receptor B (PDGFRB) (61) are associated with blood-brain barrier integrity and pericyte maintenance.

Autosomal recessively inherited cases are linked to three genes: myogenesis regulating glycosidase protein (MYORG) (98), junctional adhesion molecule 2 (JAM2) (13), and the recently discovered cytidine monophosphate (UMP-CMP) kinase 2 (CMPK2) (104).

PDGFB, MYORG, and JAM2 have the highest clinical penetrance (more than 85%), followed by XPR1 and SLC20A2 (70% and 60%, respectively). Finally, PDGFRB has a penetrance of 46% (14).

SLC20A2. SLC20A2 is the most common genetic idiopathic basal ganglia calcification, accounting for up to 61% of identified genetic cases (06). The SLC20A2 gene is located on chromosome 8 (8p11.21). To date, more than 40 families with SLC20A2 mutations have been identified worldwide, but the same mutations have also been linked to sporadic cases (90; 95).

SLC20A2 codes for the inorganic phosphate transporter 2 (PiT2), which is expressed in neurons, astrocytes, and endothelial cells, especially in the basal ganglia. Loss of function mutations in this gene result in impaired uptake of phosphate, leading to its extracellular accumulation of calcium phosphate (100; 35). Two studies showed that mice deficient in SLC20A2 had high phosphate level in CSF, predisposing to vascular brain calcification (32; 88).

PDGFB and PDGFRB. The PDGFB/PDGFRB pathway mutations are the second most common genes causing idiopathic basal ganglia calcification. PDGFB accounts for up to 12% of known genetic cases, whereas PDGFRB accounts for up to 5% (06). In animal models, PDGFRB is an essential mediator in the development of pericytes in brain vessels, which have a report of key role in the maintenance of the blood-brain barrier and is thought to be defective in idiopathic basal ganglia calcification (61). PDGFB pathway may be involved in phosphate-induced calcifications in vascular smooth muscle cells by downregulating SLC20A2 (87). Another group has observed that PDGFB increases the expression of SLC20A2 in mesenchymal cell cultures, suggesting a link between these two genes (19).

XPR1. XPR1 is located on chromosome 1 (1q25) and encodes a transmembrane protein that exports inorganic phosphate (12). It accounts for up to 16% of known genetic cases (06). In contrast with SLC20A2 mutations, inhibition of phosphate export associated with XPR1 mutations is expected to increase intracellular phosphate concentration and may induce intracellular calcium phosphate precipitation (41). It is possible that PiT2 and XPR1 participate in phosphate directional transport from CSF to the blood in epithelial cells of the choroid plexus or ependyma, known for regulating ion concentrations in CSF (04).

MYORG. MYORG is located on chromosome 9 (9p13.13) and encodes an enzyme (alpha-galactosidase) with an elevated substrate specificity for human glycans (51). This represents up to 13% of cases (06). Mutations in MYORG may result in an altered quality control process on the folding or maturation of one or more of the known autosomal dominant genes: SLC20A2, PDGFB, PDGFRB, and XPR1 (12).

JAM2. JAM2 encodes for the junctional adhesion molecule 2 and is highly expressed in endothelial cells and astrocytes, predominantly localizing on the plasma membrane. Mutations in JAM2 account for 2% of known genetic cases (06). These mutations may result in impaired cell-to-cell adhesion function and altered integrity of the neurovascular unit, subsequently leading to blood-brain barrier dysfunction (13). Furthermore, reports of biallelic mutations in other genes belonging to the junctional adhesion molecule family (JAM3 and OCLN) associated with neurologic syndromes with brain calcification further support the notion that dysregulation of adhesion molecules may result in brain calcification (52; 64; 12).

CMPK2. CMPK2 has been discovered in two unrelated families with Chinese ethnicity (104). The gene is highly expressed in neurons and endothelial vascular cells, whereby reduced expression in a knock-out mouse model has been associated with reduced numbers of mitochondrial DNA, mitochondrial proteins, and reduced ATP production with elevated intracellular inorganic phosphate levels (104).

Others. There is one report of autosomal recessive inheritance involving ISG15 protein (103). A dual mutation in SLC2042 and THAP1 genes has been reported in a large Canadian family with idiopathic basal ganglia calcification with dystonia plus syndrome (05). A report of idiopathic basal ganglia calcification demonstrated a novel heterozygous missense pathologic variant in SLC20A1 (c.920C> T/p.P307L), which is a variant in the large intracytoplasmic loop of the PiT-2 protein, further suggesting that aberrant clearance of inorganic phosphate from the brain could contribute to the pathogenesis of familial idiopathic basal ganglia calcification (75).

Finally, X-linked juvenile parkinsonism and basal ganglia calcification (Waisman syndrome) have been reported to be caused by a RAB39B mutation (78; 102).

It is also worth noting that a publication revealed that a large proportion of patients with minor calcification also demonstrated evidence of a monogenic disorder (24). These genes were often linked to genes known to be associated with cerebrovascular disease.

Pathophysiology. Predilection of calcification for the basal ganglia remains unexplained. However, the basal ganglia is a target for many other deposits, such as bilirubin in the newborn leading to kernicterus, and carbon monoxide poisoning leading to parkinsonism (47). One possible explanation is the relatively high expression of SLC20A2 in the globus pallidus, thalamus, and cerebellum (17).

Calcium and other mineral deposits have been demonstrated in the walls of capillaries, arterioles, and small veins and in perivascular spaces of patients with basal ganglia calcification (49; 35). Furthermore, histopathological studies of these patients with parkinsonism have revealed neuronal loss, gliosis, and Lewy bodies in the substantia nigra (49). Pathology also extends extracranially. Skin biopsies of patients with genetically confirmed idiopathic basal ganglia calcification revealed microangiopathy with microcalcifications in the basal lamina, within and around the pericytes (09; 60). Similar oral abnormalities, such as tooth agenesis, root dysplasia, and dental malformations, were reported in a case series of patients with idiopathic basal ganglia calcification and parathyroid disorders (89). However, the true idiopathic nature of some of these cases of basal ganglia calcification may be questioned.

The mechanism between calcification and neuronal dysfunction remains uncertain. In 2019, studies in murine models with the PDGFB mutation revealed that cells around vessel-associated calcification express markers for osteoblasts, osteoclasts, and osteocytes, leading to the presence of an osteogenic environment and progressive calcification (101). These calcifications were determined to result in oxidative stress in astrocytes that resulted in progressive neurodegeneration (101). Astrocytes in regions of significant calcification in patients with the MYORG mutation were determined to be morphologically altered and have decreased immunoreactivity of aquaporin-4 (29). The astrocytic dysfunction is hypothesized to result in blood-brain barrier disruption and, hence, neuronal dysfunction.

However, calcification itself does not always cause neuronal degeneration around the affected vessels (92; 35). This, along with epigenetic factors, may explain the wide clinical variability.

Diagnostic workup

Diagnosis of idiopathic basal ganglia calcification is made by the presence of brain calcification on imaging, appropriate clinical manifestation, and after secondary causes have been ruled out (Table 1). CT is more sensitive than MRI for finding deposits, although susceptibility-weighted imaging (SWI) can improve MRI sensitivity (48; 71). In idiopathic basal ganglia calcification, calcifications are usually symmetrical and seen in the basal ganglia and frequently also in the dentate nucleus, thalamus, or centrum semiovale.

Idiopathic basal ganglia calcification CT and MRI scans

CT and MRI scans of a 75-year-old woman with IBGC involving the basal ganglia (A to C), subcortical white matter, and cerebellar dentate nucleus (D to F). CT (A, D) most clearly demonstrates calcifications, which are not as visibl...

Reduced focal cerebral blood flow and glucose metabolism were found in several case studies in patients with basal ganglia calcification (86; 28; 08; 72). Perfusion studies such as SPECT may not demonstrate perfusion abnormalities in all calcified lesions visualized on CT scan, but they correlate more specifically with those exhibiting clinical findings (67).

When basal ganglia calcifications are identified on imaging of symptomatic patients, laboratory workup should include serum calcium, phosphate, and parathyroid hormone to exclude hypoparathyroidism and other disorders of calcium metabolism. Serum calcium, phosphate, and parathyroid hormone are normal in idiopathic basal ganglia calcification. Additional workup for secondary causes should be guided by other associated symptoms, but may include routine hematologic and biochemical investigations, workup for metabolic, inflammatory, and infectious conditions, and blood and urine heavy metal. CSF analysis may be indicated to rule out infectious or autoimmune disease, but isolated CSF protein elevation has been reported in idiopathic basal ganglia calcification (10; 80).

Grutz and colleagues proposed an algorithm based on neuroimaging findings to predict the chances of a positive genetic finding based on sites of calcification and an individual’s age (27). Based on their kindred of 24 subjects, individuals less than 40 years of age with at least one site of bilateral calcification, and 41 to 70 years of age with two bilateral calcified sites, will likely have a positive genetic finding with a sensitivity of 100% and a specificity of 92.3%. Individuals more than 70 years of age and without calcification will likely test negative (27).

Genetic testing can confirm the diagnosis of idiopathic basal ganglia calcification. However, the availability of commercial testing may vary. The levels of inorganic phosphate in CSF were found to be higher in patients with idiopathic basal ganglia calcification with SLC20A2 mutations compared to other patients with idiopathic basal ganglia calcification (including those with PDGFB mutations) and controls (30).

Testing of asymptomatic family members may include a brain CT scan to evaluate calcium deposits; however, predictive clinical value is unclear given the wide phenotypic variability within families.

Additional imaging studies that may be considered in idiopathic basal ganglia calcification workup include brain perfusion SPECT, transcranial sonography, and fluoro-L-dopa PET studies (67; 37; 73; 83).

Management

There is no consensus on the management of idiopathic basal ganglia calcification. Scant anecdotal evidence describes use of bisphosphonates to treat brain calcifications. The first to report suggested etidronate disodium provided functional benefit in a single patient with idiopathic basal ganglia calcification-related parkinsonism (44). In a small case series of seven patients, no change in imaging of calcifications was observed with weekly alendronate, and clinical outcomes were inconsistent (65). Two patients with secondary calcifications treated with etidronate disodium showed improvement in seizures and headaches (45).

The current management strategy focuses on symptomatic relief using antidepressants, mood stabilizers, antipsychotics, dopaminergics, anticonvulsants, and analgesics (66). Parkinsonism may respond to levodopa (49; 38).

Radiological follow-up of patients with head CT or MRI is not commonly performed, given the lack of management changing therapies that can be used, as well as the lack of clear disease prognosis for each case of idiopathic basal ganglia calcification (12).

The recent discovery of causative genes may have paved the way for therapeutic development. SLC20A2 variants were functionally investigated, which revealed that inorganic phosphate transport activity in cells was abolished, except in one particular variant, where the transport activity was partially maintained (62). Patients with this variant, interestingly were healthy despite coming from a family with known idiopathic basal ganglia calcification, suggesting that partial preservation of phosphate transport may help suppress the onset of idiopathic basal ganglia calcification (62). Treatment to upregulate the activity of PiT2 could be a direction for future therapeutic development (31).

Classification. Manyam proposed classification based on the anatomical sites, namely bilateral striatopallidodentate calcinosis, striatopallido (basal ganglia) calcinosis, and dentate (cerebellar) calcinosis (47). Each classification is divided into subgroups according to etiology: autosomal dominant, familial, sporadic, and secondary. The table is modified from 47, with additional disorders and references provided.

Table 1. Anatomical Classification of Calcification

Basal ganglia and dentate nucleus
Primary	Autosomal dominant Familial Sporadic
Secondary
Endocrinologic	Hypoparathyroidism Pseudohypoparathyroidism Pseudo-pseudohypoparathyroidism Hyperparathyroidism Autosomal dominant hypocalcemia (39)
Developmental	Cockayne syndrome Syndrome of microcephaly, demyelination, and striopallidodentate calcification LEOPARD syndrome (lentigines, electrocardiographic abnormality, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness) (63)
Renal	Membranoproliferative glomerulonephritis (84)
Degenerative	Multiple system atrophy (69)
Connective tissue disorders	Systemic lupus erythematosus
Toxic	Lead
Bilateral basal ganglia
Physiological	Aging: older than 50 years of age
Developmental	Angiomatous malformation with vein of Galen aneurysm Anomalous intracranial venous drainage associated with basal ganglia calcification (15) Down syndrome Oculocraniosomatic disease (Kearns-Sayre syndrome)
Degenerative	Aicardi-Goutieres syndrome Coat disease Diffuse cerebral microangiopathy Diffuse neurofibrillary tangles with calcification (82; 53) Hyperkinetic mutism Neurodegeneration with brain iron accumulation (93)
Genetic	Biotinidase deficiency Carbonic anhydrase II deficiency (autosomal recessive) COFS syndrome with familial 1;16 translocation (autosomal recessive) Lipomembranous polycystic osteodysplasia (autosomal recessive) Tapetoretinal degeneration (autosomal dominant) Osteopetrosis, renal tubular acidosis and basal ganglia calcification (autosomal recessive) (91) Cerebro-oculo-facio-skeletal syndrome (autosomal recessive) (46) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (36) Tuberous sclerosis complex (42)
Infectious	AIDS Chronic, active Epstein-Barr virus infection Meningoencephalitis Mumps encephalitis Tubercular meningitis and IBGC (01) Brucellosis (56)
Metabolic	Dihydropteridine reductase deficiency MELAS syndrome Post hypoxic/ischemic
Neoplastic	Acute lymphocytic leukemia Germ cell tumors or germinomas (02)
Physical agents	Radiation therapy
Toxic	Carbon monoxide poisoning
Dermatologic	Generalized pustular psoriasis (68)
Bilateral cerebellar
Primary	Idiopathic
Secondary
Infection	Syphilis
Vascular	Hematoma
Cerebellopontine
Primary	Idiopathic (74)
Secondary	Aicardi-Goutieres syndrome (85) Hypoparathyroidism Pseudohypoparathyroidism Moebius syndrome (26) Multifocal necrotizing leukoencephalopathy (03) Irradiation




Modified from (47)

Outcomes

Clinical presentation and disease course in idiopathic basal ganglia calcification are very heterogeneous, and outcomes have not been systematically studied.

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Contributors

All contributors' financial relationships have been reviewed and mitigated to ensure that this and every other article is free from commercial bias.

Authors

Arthur Thevathasan MD FRACP

Dr. Thevathasan of Austin Health in Australia has no relevant financial relationships to disclose.
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Kanae J Nagao MBBS FRACP

Dr. Nagao of Royal Melbourne Hospital has no relevant financial relationships to disclose.
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Editor

Robert Fekete MD

Dr. Fekete of New York Medical College received consultation fees from Acadia Pharmaceutical, Acorda, Adamas/Supernus Pharmaceuticals, Amneal/Impax, Kyowa Kirin, Lundbeck Inc., Neurocrine Inc., and Teva Pharmaceutical, Inc.
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Former Authors

Shaheda N Azher MD
Svjetlana Miocinovic MD PhD
Shilpa Chitnis MD PhD
Sarah O’Shea MD MS

Patient Profile

Age range of presentation: 6 to 65+ years
Sex preponderance: male>female
Heredity: heredity may be a factor

autosomal dominant

autosomal recessive

familial

sporadic
Population groups selectively affected: none selectively affected
Occupation groups selectively affected: none selectively affected

ICD & OMIM codes

ICD-10: Other specified degenerative diseases of basal ganglia: G23.8
ICD-11: Syndromes with brain calcifications as a major feature: LD20.4
OMIM: Solute carrier family 20 (phosphate transporter), member 2; SLC20A2: *158378

Platelet-derived growth factor, beta polypeptide; PDGFB: *190040

Platelet-derived growth factor receptor, beta; PDGFRB: *173410

Xenotropic and polytropic retrovirus receptor; XPR1: *605237

Basal ganglia calcification, idiopathic, 1: IBGC1: #213600

Basal ganglia calcification, idiopathic, 2: %606656

Basal ganglia calcification, idiopathic, 4: IBGC4: #615007

Basal ganglia calcification, idiopathic, 5: IBGC5: #615483

Basal ganglia calcification, idiopathic, childhood-onset: %114100

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Idiopathic basal ganglia calcification

Differential Diagnosis

hypoparathyroidism
pseudohypoparathyroidism
pseudo-pseudohypoparathyroidism
hyperparathyroidism
autosomal dominant hypocalcemia
- Cockayne syndrome
- syndrome of microcephaly, demyelination and striopallidodentate calcification
- LEOPARD syndrome
- multiple system atrophy
- systemic lupus erythematosus
- lead poisoning
- normal aging
- angiomatous malformation
- anomalous intracranial venous drainage
- Down syndrome
- oculocraniosomatic disease
- Kearns-Sayre syndrome
- Aicardi-Goutieres syndrome
- Coat disease
- diffuse cerebral microangiopathy
- diffuse neurofibrillary tangles with calcification
- hyperkinetic mutism
- neurodegeneration with brain iron accumulation
- PKAN
- biotinidase deficiency
- carbonic anhydrase II deficiency
- COFS syndrome
- lipomembranous polycystic osteodysplasia
- tapetoretinal degeneration
- osteopetrosis, renal tubular acidosis and basal ganglia calcification
- cerebro-oculo-facio-skeletal syndrome
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- tuberous sclerosis complex
- AIDS
- Epstein-Barr virus infection
- meningoencephalitis
- mumps encephalitis
- tubercular meningitis
- brucellosis
- dihydropteridine reductase deficiency hypoparathyroidism
- MELAS syndrome
- post-hypoxic/ischemic
- acute lymphocytic leukemia
- germ cell tumors or germinomas
- radiation therapy
- carbon monoxide poisoning
- generalized pustular psoriasis
- syphilis
- hematoma
- Moebius syndrome
- multifocal necrotizing leukoencephalopathy
- irradiation

Also Relevant

Aicardi-Goutieres syndrome
Basal ganglia: functional anatomy and neuropharmacology
Biotinidase deficiency
Brucellosis of the nervous system
Carbon monoxide poisoning
- Cerebro-oculo-facio-skeletal syndrome
- Cockayne syndrome
- Down syndrome
- Epstein-Barr virus infections of the nervous system
- CNS germinoma
- Kearns-Sayre syndrome
- MELAS
- Mobius syndrome
- Multiple system atrophy
- Systemic lupus erythematosus
- Tuberous sclerosis complex

Idiopathic basal ganglia calcification …

Idiopathic basal ganglia calcification

Cite this article

Introduction

Overview

Key points

Historical note and terminology

Clinical manifestations

Presentation and course

Prognosis and complications

Clinical vignette

Biological basis

Etiology and pathogenesis

Epidemiology

Prevention

Differential diagnosis

Confusing conditions

Diagnostic workup

Management

Table 1. Anatomical Classification of Calcification

Outcomes

Media

References

Contributors

Authors

Editor

Former Authors

Patient Profile

ICD & OMIM codes

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to access the full version.

Questions or Comment?

Also in This Category

Motor control of movement disorders

Fragile X-associated tremor/ataxia syndrome

Acute drug-induced movement disorders

Movement disorder emergencies

Tardive dystonia

Ataxia

Sleep and parkinsonism

Movement disorders associated with autoimmune encephalitis

Idiopathic basal ganglia calcification

Cite this article

Introduction

Overview

Key points

Historical note and terminology

Clinical manifestations

Presentation and course

Prognosis and complications

Clinical vignette

Biological basis

Etiology and pathogenesis

Epidemiology

Prevention

Differential diagnosis

Confusing conditions

Diagnostic workup

Management

Table 1. Anatomical Classification of Calcification

Outcomes

Media

References

Contributors

Authors

Editor

Former Authors

Patient Profile

ICD & OMIM codes

This is an article preview. Start a Free Account to access the full version.

Questions or Comment?

Also in This Category

Motor control of movement disorders

Fragile X-associated tremor/ataxia syndrome

Acute drug-induced movement disorders

Movement disorder emergencies

Tardive dystonia

Ataxia

Sleep and parkinsonism

Movement disorders associated with autoimmune encephalitis

This is an article preview.
Start a Free Account
to access the full version.