Movement Disorders
Hemifacial spasm
Oct. 24, 2024
Worddefinition
At vero eos et accusamus et iusto odio dignissimos ducimus qui blanditiis praesentium voluptatum deleniti atque corrupti quos dolores et quas.
Idiopathic basal ganglia calcification …
- Updated 12.27.2023
- Released 06.25.2007
- Expires For CME 12.27.2026
Idiopathic basal ganglia calcification
Introduction
Overview
Idiopathic basal ganglia calcification (IBGC), previously 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 manifestation, 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 such as parkinsonism, ataxia, chorea, tremor, dystonia, athetosis, or orofacial dyskinesia. However, approximately one third of patients may be asymptomatic. | |
|
• The term idiopathic basal ganglia calcification may be used only after excluding secondary causes of basal ganglia calcification. | |
|
• 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 dentate nucleus, thalamus, and white matter have been reported in asymptomatic individuals and in a variety of neurologic conditions (68; 49; 79). 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 compared to other disorders with similar radiographic appearance (49).
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 (49). As genetic underpinnings of idiopathic basal ganglia calcification have been identified, many authors have started using the term “primary familial” instead of “idiopathic” (82; 37; 83). 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) (96). 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.
Secondary brain calcification, conversely, has been reported in a variety of genetic, developmental, metabolic, infectious, and other conditions (see Table 1) (49). To avoid confusion the term “secondary” should be used to differentiate it from idiopathic basal ganglia calcification (78).
A historical description of basal ganglia calcification is provided by Manyam (49). 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” (26). Fahr’s name subsequently became associated with all forms of bilateral calcifications in the basal ganglia. Fritzsche gave the first roentgenographic description of the condition in 1935 (49).
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, but may be seen in childhood and older age (60). Clinically, parkinsonism or other movement disorders (ataxia, chorea, tremor, dystonia, athetosis, orofacial dyskinesia) appear to be the most common presentation, followed by neuropsychiatric symptoms (cognitive impairment depression, psychosis, personality changes) and less commonly dysarthria, gait abnormalities, seizures, and migraines (52; 60). In 2001, Manyam and colleagues described clinical manifestations in 99 patients with idiopathic basal ganglia calcification from a registry (The Fahr’s Disease Registry) and 20 published studies (52). Of 99 subjects included, 67 were symptomatic and 32 asymptomatic. Movement disorder was the most common manifestation, accounting for about 55% of the symptomatic patients. In this study, greater amount of calcification (as measured on CT in the dentate nucleus, centrum semiovale and sum total) was seen in symptomatic compared to asymptomatic individuals (52).
In 2015, clinical manifestations of 57 genetically confirmed cases of idiopathic basal ganglia calcification cases were reported (60). Consistent with earlier evidence, 58% of subjects were symptomatic, with median age of onset 31 years (range 6 to 77 years). The three most frequently observed categories of clinical features were psychiatric signs (75.8%), movement disorders (60.6%), and cognitive impairment (57.8%). Patients with early onset (< 18 years) showed primarily psychiatric or cognitive signs, whereas those with later onset (> 53 years) had mostly movement disorders.
In both reviews, parkinsonism, or akinetic-rigid syndrome, was the most common type of movement disorder, followed by chorea and other akinetic-rigid syndrome, and other presentations of isolated tremor, dystonia, and orofacial dyskinesia. Other less common features included speech deficit, cerebellar signs, pyramidal signs, sensory changes, pain, and seizures (52; 60). Interestingly, migraines were reported in 14% of subjects; however, it was unclear if this finding was coincidental or related to idiopathic basal ganglia calcification (60).
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 (24; 17; 57), isolated schizophrenia-like psychosis (27; 61; 56), stroke (98), and impulse-control disorder (73), and adult-onset Tourettism (72).
The diagnosis of idiopathic basal ganglia calcification is supported by the following criteria (82):
|
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 fourth or 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 30% to 40% of individuals with large calcification burden or idiopathic basal ganglia calcification gene carriers are asymptomatic (52; 60). The neurodegenerative evolution of the disease was suggested by two studies where imaging demonstrated development of cerebral atrophy in several affected patients (51; 43).
Complications of idiopathic basal ganglia calcification include movement disorders, psychiatric symptoms, cognitive impairment, speech disorders, cerebellar impairment, and less commonly pyramidal signs, gait disorders, sensory changes, pain, seizures, and migraines (52; 18; 60).
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. As of 2023, 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 (13). Autosomal dominantly inherited cases are associated with mutations in four genes: solute carrier 20 member 2 (SLC20A2) (100) and xenotropic and polytropic retrovirus receptor 1 (XPR1) (44) have been linked to phosphate metabolism. Platelet-derived growth factor B (PDGFB) (36) and platelet-derived growth factor receptor B (PDGFRB) (63) are associated with blood-brain barrier integrity and pericyte maintenance.
Autosomal recessively inherited cases are caused by three genes: myogenesis regulating glycosidase protein (MYORG) (99), junctional adhesion molecule 2 (JAM2) (14), and the recently discovered cytidine monophosphate (UMP-CMP) kinase 2 (CMPK2) (103).
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 (59; 81). 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 are still 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 (13). Age of onset, clinical presentation, and severity vary both between and within families (12; 68; 23).
Four autosomal dominant causative genes have been identified. Early study on a large, multigenerational family with an autosomal dominant inheritance was found to have significant linkage to the long arm of chromosome 14 (29). Three loci were then linked to the disorder (IBGC1-3) (90; 19), and subsequently SLC20A2 was the first gene identified (100). Eventually, all three idiopathic basal ganglia calcification loci were found to map to the SLC20A2 gene (33; 30). Additional genes that have been described include platelet-derived growth factor receptor beta (PDGFB) (36), PDGFRB (63), and (XPR1) (44). Three autosomal recessive causative genes have been identified: MYORG (99), JAM2 (14) and the recently discovered CMPK2 (103). However, a large number of familial cases still do not have a known gene (08). 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% (15).
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 (33; 92; 97).
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; 38). Two studies showed that mice deficient in SLC20A2 had high phosphate level in CSF, predisposing to vascular brain calcification (35; 91).
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 (63). PDGFB pathway may be involved in phosphate-induced calcifications in vascular smooth muscle cells by downregulating SLC20A2 (89). Another group has observed that PDGFB increases the expression of SLC20A2 in mesenchymal cell cultures, suggesting a link between these two genes (22).
XPR1. XPR1 is located on chromosome 1 (1q25) and encodes a transmembrane protein that exports inorganic phosphate (13). 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 (44). 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 (53). 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 (13).
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 (14). 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 (54; 66; 13).
CMPK2. CMPK2 has been discovered in two unrelated families with Chinese ethnicity (103). 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 (103).
Others. There is one report of autosomal recessive inheritance involving ISG15 protein (102). 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 (77).
Finally, X-linked juvenile parkinsonism and basal ganglia calcification have been reported to be caused by a RAB39B mutation (80).
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 (49). One possible explanation is the relatively high expression of SLC20A2 in the globus pallidus, thalamus, and cerebellum (20).
Calcium and other mineral deposits have been demonstrated in the walls of capillaries, arterioles, and small veins and in perivascular spaces (51; 38). Furthermore, histopathological studies of patients with basal ganglia calcification and parkinsonism have revealed neuronal loss, gliosis, and Lewy bodies in the substantia nigra (51). 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 (10; 62).
The mechanism between calcification and neuronal dysfunction remains uncertain. In 2019, Zarb and colleagues demonstrated in murine models with the PDGFB mutation 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 which resulted in progressive neurodegeneration (101).
However, calcification itself does not always cause neuronal degeneration around the affected vessels (94; 38). This, along with epigenetic factors may explain the wide clinical variability.
Epidemiology
Idiopathic basal ganglia calcification is a rare condition, but precise incidence is difficult to establish given the varied nomenclature in the literature and wide spectrum of clinical manifestations including asymptomatic carriers.
Earlier studies have suggested slightly higher incidence in men than in women (1.3-2:1), whereas a large-scale systematic review of 516 patients revealed a lower incidence in men (46%) (06), and one study showed no sex bias, despite a higher calcification burden in men (51; 92; 60). Older age and lower body mass index (BMI) have been associated with greater risk of developing basal ganglia calcifications (21).
Idiopathic basal ganglia calcification is thought to have onset between ages 30 and 50; however, onset in childhood or older age is not uncommon (82; 92; 60).
Prevention
There are no known methods to prevent idiopathic basal ganglia calcification.
Differential diagnosis
The main differential diagnosis is hypoparathyroidism and other endocrine disorders of calcium metabolism. Before idiopathic basal ganglia calcification diagnosis can be made, disorders causing secondary brain calcifications, listed in Table 1, should be considered.
Confusing conditions
Punctate basal ganglia calcifications, especially confined to the pallidum, can be associated with normal aging, are considered “physiological” over the age of 50, and are noted as an incidental finding in up to 20% of head CTs (96; 78). As previously noted, metabolic disorders such as pseudohypoparathyroidism, Aicardi-Goutieres syndrome, mitochondrial diseases, neuroferritinopathies, and more rarely, congophilic amyloid angiopathy are associated with basal ganglia calcification (25). Therefore, patient history and metabolic work-up must be considered prior to making a diagnosis of idiopathic basal ganglia calcification (25).
Diagnostic workup
Diagnosis of idiopathic basal ganglia calcification is made by 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 (50; 73). 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.
Healthy older people may have incidental bilateral basal ganglia calcification of unknown pathologic significance and this is not considered idiopathic basal ganglia calcification (calcifications are typically smaller than in idiopathic basal ganglia calcification and confined to pallidum) (96).
Reduced focal cerebral blood flow and glucose metabolism were found in several case studies in patients with basal ganglia calcification (88; 31; 09; 74). 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 (69).
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 (11; 82).
Grutz and colleagues proposed an algorithm based on neuroimaging findings to predict the chances of positive genetic finding based on sites of calcification and an individual’s age (30). 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 (30).
Genetic testing can confirm the diagnosis of idiopathic basal ganglia calcification. However, 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 (32).
Testing of asymptomatic family members may include brain CT scan to evaluate calcium deposits; however, predictive clinical value is unclear given 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 (69; 40; 75; 85).
Management
There is no consensus on management of idiopathic basal ganglia calcification. Scant anecdotal evidence describes use of bisphosphonates to treat brain calcifications. The first to report, a etidronate disodium use suggested functional benefit in a single patient with idiopathic basal ganglia calcification-related parkinsonism (46). In a small case series of seven patients, no change in imaging of calcifications was observed with weekly alendronate, and clinical outcomes were inconsistent (67). Two patients with secondary calcifications treated with etidronate disodium showed improvement in seizures and headaches (47).
The current management strategy focuses on symptomatic relief using antidepressants, mood stabilizers, antipsychotics, dopaminergics, anticonvulsants, and analgesics (68). Parkinsonism may respond to levodopa (51; 41).
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 (13).
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 (64). 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 (64). Treatment to upregulate the activity of PiT2 could be a direction for future therapeutic development (34).
Classification. Manyam proposed classification based on the anatomical sites, namely bilateral striopallidodentate calcinosis, striopallido (basal ganglia) calcinosis, and dentate (cerebellar) calcinosis (49). Each classification is divided into subgroups according to etiology: autosomal dominant, familial, sporadic, and secondary. The table is modified from 49, with additional disorders and references provided.
Table 1. Anatomical Classification of Calcification
Basal ganglia and dentate nucleus | |
Primary | Autosomal dominant |
Secondary | |
Endocrinologic | Hypoparathyroidism |
Developmental | Cockayne syndrome |
Renal | Membranoproliferative glomerulonephritis (86) |
Degenerative | Multiple system atrophy (71) |
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 |
Degenerative | Aicardi-Goutieres syndrome |
Genetic | Biotinidase deficiency |
Infectious | AIDS |
Metabolic | Dihydropteridine reductase deficiency |
Neoplastic | Acute lymphocytic leukemia |
Physical agents | Radiation therapy |
Toxic | Carbon monoxide poisoning |
Dermatologic | Generalized pustular psoriasis (70) |
Bilateral cerebellar | |
Primary | Idiopathic |
Secondary | |
Infection | Syphilis |
Vascular | Hematoma |
Cerebellopontine | |
Primary | Idiopathic (76) |
Secondary | Aicardi-Goutieres syndrome (87) |
| |
Outcomes
Clinical presentation and disease course in idiopathic basal ganglia calcification are very heterogeneous, and outcomes have not been systematically studied.
Media
References
- 01
- Aggarwal P, Kumar G, Dev N, Jain S. Fahr’s disease: an incidental finding in a patient of tubercular meningitis. BMJ Case Rep 2012;2012. PMID 23208809
- 02
- Almubarak S, Gan YC, Steinbok P, et al. Occurrence of basal ganglia germ cell tumors without a mass. Arch Neurol 2009;66(6):789-92. PMID 19506143
- 03
- Anders KH, Becker PS, Holden JK, et al. Multifocal necrotizing leukoencephalopathy with pontine predilection in immunosuppressed patients: a clinicopathologic review of 16 cases. Hum Pathol 1993;24(8):897-904. PMID 8375859
- 04
- Anheim M, López-Sánchez U, Giovannini D, et al. XPR1 mutations are a rare cause of primary familial brain calcification. J Neurol 2016;263(8):1559-64. PMID 27230854
- 05
- Baker M, Strongosky AJ, Sanchez-Contreras MY, et al. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics 2014;15(1):23-30. PMID 24135862
- 06
- Balck A, Schaake S, Kuhnke NS, et al. Genotype-phenotype relations in primary familial brain calcification: systematic MDSGene review. Mov Disord 2021;36(11):2468-80.** PMID 34432325
- 07
- Bamberger H. Beobachtungen und bemerkungen uber hirnkrankheiten. Verhandle Phy Med Ges 1855;6:325-8.
- 08
- Batla A, Stamelou M. Primary familial brain calcification in the IBGC2 kindred: all linkage roads lead to SLC20A2. Mov Disord 2016;31(12):1765-6. PMID 27862320
- 09
- Benke T, Karner E, Seppi K, Delazer M, Marksteiner J, Donnemiller E. Subacute dementia and imaging correlates in a case of Fahr’s disease. J Neurol Neurosurg Psychiatry 2004;75:1163-5. PMID 15258221
- 10
- Biancheri R, Severino M, Robbiano A, et al. White matter involvement in a family with a novel PDGFB mutation. Neurol Genet 2016;2(3):e77. PMID 27227165
- 11
- Bonazza S, La Morgia C, Martinelli P, Capellari S. Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients. Neurol Sci 2011;32(4):537-45.** PMID 21479613
- 12
- Brodaty H, Mitchell P, Luscombe G, et al. Familial idiopathic basal ganglia calcification (Fahr’s disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. Hum Genet 2002;110(1):8-14. PMID 11810290
- 13
- Carecchio M, Mainardi M, Bonato G. The clinical and genetic spectrum of primary familial brain calcification. J Neurol 2023;270(6):3270-7.** PMID 36862146
- 14
- Cen Z, Chen Y, Chen S, et al. Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification. Brain 2020;143(2):491-502. PMID 31851307
- 15
- Chen SY, Ho CJ, Lu YT, Lin CH, Lan MY, Tsai MH. The genetics of primary familial brain calcification: a literature review. Int J Mol Sci 2023;24(13):10886. PMID 37446066
- 16
- Chen Z, Feng H, Zhu G, Wu N, Lin J. Anomalous intracranial venous drainage associated with basal ganglia calcification. AJNR Am J Neuroradiol 2007;28(1):22-4. PMID 17213417
- 17
- Chung EJ, Cho GN, Kim SJ. A case of paroxysmal kinesigenic dyskinesia in idiopathic bilateral striopallidodentate calcinosis. Seizure 2012;21(10):802-4. PMID 23058742
- 18
- Chung SH, Chen SC, Chen WJ, Lee CC. Symmetric basal ganglia calcification in a 9-year-old child with MELAS. Neurology 2005;65(9):E19. PMID 16275816
- 19
- Dai X, Gao Y, Xu Z, et al. Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. Am J Med Genet B Neuropsychiatr Genet 2010;153B(7):1305-10. PMID 20552677
- 20
- da Silva RJ, Pereira IC, Oliveira JR. Analysis of gene expression pattern and neuroanatomical correlates for SLC20A2 (PiT-2) shows a molecular network with potential impact in idiopathic basal ganglia calcification (“Fahr’s Disease”). J Mol Neurosci 2013;50(2):280-3. PMID 23576097
- 21
- de Brouwer EJ, Kockelkoren R, De Vis JB, et al. Prevalence and vascular risk factors of basal ganglia calcifications in patients at risk for cerebrovascular disease. J Neuroradiol 2020;47(5):337-42. PMID 31034898
- 22
- Demoulin JB, Ericsson J, Kallin A, Rorsman C, Rönnstrand L, Heldin CH. Platelet-derived growth factor stimulates membrane lipid synthesis through activation of phosphatidylinositol 3-kinase and sterol regulatory element-binding proteins. J Biol Chem 2004;279(34):35392-402. PMID 15213220
- 23
- Deng H, Zheng W, Jankovic J. Genetics and molecular biology of brain calcification. Ageing Res Rev 2015;22:20-38. PMID 25906927
- 24
- Diaz GE, Wirrell EC, Matsumoto JY, Krecke KN. Bilateral striopallidodentate calcinosis with paroxysmal kinesigenic dyskinesia. Pediatr Neurol 2010;43(1):46-8. PMID 20682203
- 25
- Donzuso G, Mostile G, Nicoletti A, Zappia M. Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features. Neurol Sci 2019;40(11):2251-63. PMID 31267306
- 26
- Fahr I. Idiopathipathische verkalking der hirume fasse. Zbl Allf Path 1930;50:129-33.
- 27
- Francis A, Freeman H. Psychiatric abnormality and brain calcification over four generations. J Nerv Ment Dis 1984;172(3):166-70. PMID 6142086
- 28
- Fujita I, Koyanagi T, Kukita J, et al. Moebius syndrome with central hypoventilation and brainstem calcification: a case report. Eur J Pediatr 1991;150(8):582-3. PMID 1954965
- 29
- Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification. Am J Hum Genet 1999;65:764-72. PMID 10441584
- 30
- Grutz K, Volpato CB, Domingo A, et al. Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. Mov Disord 2016;31(12):1901-4.** PMID 27671522
- 31
- Hempel A, Henze M, Berghoff C, Garcia N, Ody R, Schroder J. PET findings and neuropsychological deficits in a case of Fahr’s disease. Psychiatry Res 2001;108(2):133-40. PMID 11738547
- 32
- Hozumi I, Kurita H, Ozawa K, et al. Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). J Neurol Sci 2018;388:150-4. PMID 29627011
- 33
- Hsu SC, Sears RL, Lemos RR, et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 2013;14(1):11-22. PMID 23334463
- 34
- Inden M, Kurita H, Hozumi I. Characteristics and therapeutic potential of sodium-dependent phosphate cotransporters in relation to idiopathic basal ganglia calcification. J Pharmacol Sci 2022;148(1):152-5. PMID 34924120
- 35
- Jensen N, Schroder HD, Hejbol EK, Füchtbauer EM, de Oliveira JR, Pedersen L. Loss of function of SLC20A2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice. J Mol Neurosci 2013;51(3):994-9. PMID 23934451
- 36
- Keller A, Westenberger A, Sobrido MJ, et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 2013;45(9):1077-82. PMID 23913003
- 37
- Keogh MJ, Pyle A, Daud D, et al. Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. Neurology 2015;84(17):1818-20. PMID 25832657
- 38
- Kimura T, Miura T, Aoki K, et al. Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. Neuropathology 2016;36(4):365-71. PMID 26635128
- 39
- Klunemann HH, Ridha BH, Magy L, et al. The genetic causes of basal ganglia calcification, dementia, and bone cysts DAP 12 and TREM 2. Neurology 2005;64:1502-7. PMID 15883308
- 40
- Krogias C, Meves S, Schoellhammer M, Gold R, Andrich J. Sonographic detection of bilateral striatopallidodentate calcinosis. J Neurol 2009;256(2):266-7. PMID 19242648
- 41
- Kumar N, Jog M. Fahr's disease presenting as late-onset levodopa-responsive parkinsonism. Can J Neurol Sci 2017:1-2. PMID 28091340
- 42
- Kurozumi A, Okada Y, Arao T, Endou I, Matsumoto T, Tanaka Y. Extrapyramidal symptoms and advanced calcification of the basal ganglia in a patient with autosomal dominant hypocalcemia. Intern Med 2013;52(18):2077-81. PMID 24042516
- 43
- Lam JS, Fong SY, Yiu GC, Wing YK. Fahr’s disease: a differential diagnosis of frontal lobe syndrome. Hong Kong Med 2007;13:75-7. PMID 17277397
- 44
- Legati A, Giovannini D, Nicolas G, et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet 2015;47(6):579-81. PMID 25938945
- 45
- Legido A, Zimmerman RA, Packer RJ, Bilaniuk LT, Siegel KR, D'Angio G. Significance of basal ganglia calcification on computed tomography in children. Pediatr Neurosci 1988;14(2):64-70. PMID 3251210
- 46
- Loeb JA. Functional improvement in a patient with cerebral calcinosis using a bisphonate. Mov Disord 1998;13:345-9. PMID 9539353
- 47
- Loeb JA, Sohrab SA, Huq M, Fuerst DR. Brain calcifications induce neurological dysfunction that can be reversed by a bone drug. J Neurol Sci 2006;243(1-2):77-81. PMID 16430923
- 48
- Longman C, Sewry CA, Muntoni F. Muscle involvement in the cerebro-oculo-facio-skeletal syndrome. Pediatr Neurol 2004;30(2):125-8. PMID 14984906
- 49
- Manyam BV. What is and what is not ‘Fahr’s disease’. Parkinsonism Relat Disord 2005;11(2):73-80.** PMID 15734663
- 50
- Manyam BV, Bhatt MH, Moore WD, Devleschoward AB, Anderson DR, Calne DB. Bilateral striopallidodentate calcinosis: cerebrospinal fluid, imaging, electrophysiological studies. Ann Neurol 1992;31(4):379-84. PMID 1586138
- 51
- Manyam BV, Walters AS, Keller IA, Ghobrial M. Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis. Park Relat Disord 2001b;7(4):289-95. PMID 11344012
- 52
- Manyam BV, Walters AS, Narla KR. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Mov Disord 2001a;16(2):258-64.** PMID 11295778
- 53
- Meek RW, Brockerman J, Fordwour OB, Zandberg WF, Davies GJ, Vocadlo DJ. The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity. PLoS Biol 2022;20(9):e3001764. PMID 36129849
- 54
- Mochida GH, Ganesh VS, Felie JM, et al. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet 2010;87(6):882-9. PMID 21109224
- 55
- Modrego PJ, Mojonero J, Serrano M, Fayed N. Fahr’s syndrome presenting with pure and progressive presenile dementia. Neurol Sci 2005;26(5):367-9. PMID 16388376
- 56
- Mohapatra S, Satapathy A. A case of schizophrenia like psychosis due to Fahr's disease. Indian J Psychol Med 2016;38(2):155-6. PMID 27114631
- 57
- Montilla-Uzcategui V, Araujo-Unda H, Daza-Restrepo A, Sáenz-Farret M, Micheli F. Paroxysmal nonkinesigenic dyskinesias responsive to carbamazepine in Fahr syndrome: a case report. Clin Neuropharmacol 2016;39(5):262-4. PMID 27280699
- 58
- Mousa AM, Muhtaseb SA, Reddy RR, Senthilselvan A, Al-Mudallal DS, Marafie AA. The high rate of prevalence of CT-detected basal ganglia calcification in neuropsychiatric (CNS) brucellosis. Acta Neurol Scand 1987;76(6):448-56. PMID 3434203
- 59
- Neumann MA. Iron and calcium dysmetabolism in the brain with special predilection for globus pallidus and cerebellum. J Neuropath Exp Neurol 1963;22:148-68. PMID 13938167
- 60
- Nicolas G, Charbonnier C, de Lemos RR, et al. Brain calcification process and phenotypes according to age and sex: lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Am J Med Genet B Neuropsychiatr Genet 2015;168(7):586-94.** PMID 26129893
- 61
- Nicolas G, Guillin O, Borden A, Bioux S, Lefaucheur R, Hannequin D. Psychosis revealing familial idiopathic basal ganglia calcification. Gen Hosp Psychiatry 2013a;35(5):575.e3-5. PMID 2312248
- 62
- Nicolas G, Marguet F, Laquerrière A, Mendes de Oliveira JR, Hannequin D. Microangiopathy in primary familial brain calcification: Evidence from skin biopsies. Neurol Genet 2017;3(2):e134. PMID 28210710
- 63
- Nicolas G, Pottier C, Maltête D, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 2013b;80(2):181-7. PMID 23255827
- 64
- Nishii K, Shimogawa R, Kurita H, et al. Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification. Sci Rep 2019;9(1):17288. PMID 31754123
- 65
- Niwa A, Naito Y, Kuzuhara S. Severe cerebral calcification in a case of LEOPARD syndrome. Intern Med 2008;47(21):1925-9. PMID 18981639
- 66
- O'Driscoll MC, Daly SB, Urquhart JE, et al. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet 2010;87(3):354-64. PMID 20727516
- 67
- Oliveira JR, Oliveira MF. Primary brain calcification in patients undergoing treatment with the biphosphanate alendronate. Sci Rep 2016;6:22961. PMID 26976513
- 68
- Oliveira JR, Spiteri E, Sobrido MJ, et al. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology 2004;63(11):2165-7. PMID 15596772
- 69
- Ones T, Dede F, Gunal D, et al. The clinical utility of 99mTc-HMPAO SPECT in Fahr’s disease. Ann Nucl Med 2008;22(5):425-8. PMID 18600421
- 70
- Pacheco D, Travassos AR, Antunes J, Marques MS, Filipe P, Silva R. Secondary bilateral striopallidodentate calcinosis associated with generalized pustular psoriasis (Von Zumbusch). Dermatol Online J 2013;19(6):18569. PMID 24011318
- 71
- Preusser M, Kitzwoegerer M, Budka H, Brugger S. Bilateral striopallidodentate calcification (Fahr’s syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism. Neuropathology 2007;27(5):453-6. PMID 18018479
- 72
- Reyes N, Lang AE. Adult-onset Tourettism in SLC20A2-associated primary familial brain calcification. Mov Disord Clin Pract 2023;10(7):1152-4. PMID 37476312
- 73
- Sahin N, Solak A, Genc B, Kulu U. Fahr disease: use of susceptibility-weighted imaging for diagnostic dilemma with magnetic resonance imaging. Quant Imaging Med Surg 2015;5(4):628-32. PMID 26435928
- 74
- Saiki M, Saiki S, Sakai K, et al. Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ganglia calcification. Mov Disord 2007;22(7):1027-30. PMID 17357130
- 75
- Saito T, Nakamura M, Shimizu T, et al. Neuroradiologic evidence of pre-synaptic and post-synaptic nigrostriatal dopaminergic dysfunction in idiopathic Basal Ganglia calcification: a case report. J Neuroimaging 2010;20(2):189-91. PMID 19021829
- 76
- Saito Y, Shibuya M, Hayashi M, et al. Cerebellopontine calcification: a new entity of idiopathic intracranial calcification? Acta Neuropathol 2005;110(1):77-83. PMID 15959794
- 77
- Sakai K, Ishida C, Hayashi K, et al. Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c.902C>T/p.P307L) in SLC20A2 showing widespread cerebrovascular lesions. Neuropathology 2022;42(2):126-33. PMID 35026865
- 78
- Savino E, Soavi C, Capatti E, et al. Bilateral strio-pallido-dentate calcinosis (Fahr's disease): report of seven cases and revision of literature. BMC Neurol 2016;16:165. PMID 27608765
- 79
- Schmidt U, Mursch K, Halatsch ME. Symmetrical intracerebral and intracerebellar calcification (“Fahr’s disease”). Funct Neurol 2005;20(1):15. PMID 15948562
- 80
- Shi CH, Zhang SY, Yang ZH, et al. A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification. Mov Disord 2016;31(12):1905-9. PMID 27943471
- 81
- Smeyers-Verbeke J, Michotte Y, Pelsmaeckers J, et al. The chemical composition of idiopathic nonarteriosclerotic cerebral calcifications. Neurology 1975;25(1):48-57. PMID 122856
- 82
- Sobrido MJ, Coppola G, Oliveira J, et al. Primary familial brain calcification. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. Gene Reviews [Internet]. Seattle (WA): University of Washington, Seattle, 2014.
- 83
- Taglia I, Bonifati V, Mignarri A, Dotti MT, Federico A. Primary familial brain calcification: update on molecular genetics. Neurol Sci 2015;36(5):787-94. PMID 25686613
- 84
- Terada S, Ishizu H, Tanabe Y, et al. Plaque-like structures and arteriosclerotic changes in “diffuse neurofibrillary tangles with calcification (DNTC). Acta Neuropathol 2001;102(6):597-603. PMID 11761720
- 85
- Toscano M, Canevelli M, Giacomelli E, et al. Transcranial sonography of basal ganglia calcifications in Fahr disease. J Ultrasound Med 2011;30(7):1032-3. PMID 21705738
- 86
- Tsuchiya Y, Ubara Y, Anzai M, et al. A case of idiopathic basal ganglia calcification associated with membranoproliferative glomerulonephritis. Intern Med 2011;50(20):2351-6. PMID 22001464
- 87
- Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E. Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. AJNR Am J Neuroradiol 2009;30(10):1971-6. PMID 19628626
- 88
- Uygur GA, Liu Y, Hellman RS, Tikofsky RS, Collier BD. Evaluation of regional cerebral blood flow in massive intracerebral calcifications. J Nucl Med 1995;36(4):610-2. PMID 7699451
- 89
- Villa-Bellosta R, Levi M, Sorribas V. Vascular smooth muscle cell calcification and SLC20 inorganic phosphate transporters: effects of PDGF, TNF-alpha, and Pi. Pflugers Arch 2009;458(6):1151-61. PMID 19506901
- 90
- Volpato CB, De Grandi A, Buffone E, et al. 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. J Mol Neurosci 2009;39(3):346-53. PMID 19757205
- 91
- Wallingford MC, Chia JJ, Leaf EM, et al. SLC20A2 deficiency in mice leads to elevated phosphate levels in cerebrospinal fluid and glymphatic pathway-associated arteriolar calcification, and recapitulates human idiopathic basal ganglia calcification. Brain Pathol 2017;27(1):64-76. PMID 26822507
- 92
- Westenberger A, Klein C. The genetics of primary familial brain calcifications. Curr Neurol Neurosci Rep 2014. 14:490. PMID 25212438
- 93
- Whyte MP, Murphy WA, Fallon MD, et al. Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. Am J Med 1980;69(1):64-74. PMID 7386510
- 94
- Wider C, Dickson DW, Schweitzer KJ, Broderick DF, Wszolek ZK. Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation. J Neurol 2009;256(5):839-42. PMID 19252803
- 95
- Wu YW, Hess CP, Singhal NS, Groden C, Toro C. Idiopathic basal ganglia calcifications: an atypical presentation of PKAN. Pediatr Neurol 2013;49(5):351-4. PMID 23968566
- 96
- Yamada M, Asano T, Okamoto K, et al. High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults. Geriatr Gerontol Int 2013;13(3):706-10. PMID 23279700
- 97
- Yamada M, Tanaka M, Takagi M, et al. Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. Neurology 2014;82(8):705-12. PMID 24463626
- 98
- Yang CS, Lo CP, Wu MC. Ischemic stroke in a young patient with Fahr's disease: a case report. BMC Neurol 2016;16:33.** PMID 26951767
- 99
- Yao XP, Cheng X, Wang C, et al. Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification. Neuron 2018;98(7):1116-23. PMID 29910000
- 100
- Wang C, Li Y, Shi L, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 2012;44(3):254-6. PMID 22327515
- 101
- Zarb Y, Weber-Stadlbauer U, Kirschenbaum D, et al. Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response. Brain 2019;142(4):885-902. PMID 30805583
- 102
- Zhang X, Bogunovic D, Payelle-Brogard B, et al. Human intracellular ISG15 prevents interferon-a/b over-amplification and auto-inflammation. Nature 2015;517(7532):89-93. PMID 25307056
- 103
- Zhao M, Su HZ, Zeng YH, et al. Loss of function of CMPK2 causes mitochondria deficiency and brain calcification. Cell Discov 2022;8(1):128. PMID 36443312
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
Dr. Thevathasan of Austin Health in Australia received meeting attendance sponsorship from Abbvie.
See Profile -
Kanae J Nagao MBBS FRACP
Dr. Nagao of Royal Melbourne Hospital has no relevant financial relationships to disclose.
See Profile
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.
See Profile
Former Authors
- Sarah O’Shea MD MS
- Shaheda N Azher MD (original author), Svjetlana Miocinovic MD PhD, and Shilpa Chitnis MD PhD
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-9
-
- Other degenerative diseases of the basal ganglia: 333.0
- ICD-10
-
- Other specified degenerative diseases of basal ganglia: G23.8
- 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
This is an article preview.
Start a Free Account
to access the full version.
-
Nearly 3,000 illustrations, including video clips of neurologic disorders.
-
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
-
Full spectrum of neurology in 1,200 comprehensive articles.
-
Listen to MedLink on the go with Audio versions of each article.
Questions or Comment?
MedLink®, LLC
3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
Also in This Category
-
-
Neurogenetic Disorders
Wilson disease
Oct. 23, 2024
-
Peripheral Neuropathies
Neuroacanthocytosis
Aug. 22, 2024
-
Movement Disorders
Restless legs syndrome
Aug. 22, 2024
-
Neurobehavioral & Cognitive Disorders
Dementia in Parkinson disease
Aug. 16, 2024
-
General Neurology
ALS-like disorders of the Western Pacific
Aug. 14, 2024
-
Sleep Disorders
Sleep-related leg cramps
Aug. 09, 2024
-
Sleep Disorders
Sleep and cerebral degenerative disorders
Jul. 13, 2024