Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Idiopathic basal ganglia calcification 1

Idiopathic basal ganglia calcification 1 is an autosomal dominant disorder caused by mutations of the SLC20A2 gene.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
SLC20A2
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Geschwind DH et. al. (1999) Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

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2.

Brodaty H et. al. (2002) Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.

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3.

Oliveira JR et. al. (2004) Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).

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4.

Dai X et. al. (2010) Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification.

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5.

Wang C et. al. (2012) Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

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6.

Hsu SC et. al. (2013) Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

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7.

Nyland H et. al. (1977) Cerebral calcinosis with late onset encephalopathy. Unusual type of pseudo-pseudohypoparathyreoidism.

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8.

None (1979) Familial basal ganglia calcification and schizophreniform psychosis.

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9.

Koller WC et. al. (1979) Calcification of the basal ganglia: computerized tomography and clinical correlation.

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10.

Boller F et. al. (1977) Familial idiopathic cerebral calcifications.

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11.

Flint J et. al. (1992) Familial calcification of the basal ganglia: a case report and review of the literature.

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12.

Förstl H et. al. (1992) Neurological disorders in 166 patients with basal ganglia calcification: a statistical evaluation.

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13.

Manyam BV et. al. (1992) Bilateral striopallidodentate calcinosis: cerebrospinal fluid, imaging, and electrophysiological studies.

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14.

Ellie E et. al. (1989) Familial idiopathic striopallidodentate calcifications.

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15.

Babbitt DP et. al. (1969) Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's disease) and review of differential diagnosis of intracranial calcification in children.

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16.

Moskowitz MA et. al. (1971) Familial calcification of the basal ganglions: a metabolic and genetic study.

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17.

Harati Y et. al. (1984) Adult onset idiopathic familial brain calcifications.

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18.

Smits MG et. al. (1983) Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings.

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19.

Harrington MG et. al. (1981) The significance of the incidental finding of basal ganglia calcification on computed tomography.

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20.

Puvanendran K et. al. (1980) Idiopathic familial basal ganglia calcification associated with juvenile hypertension.

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21.

None (1995) Non-progressive familial idiopathic intracranial calcification: a family report.

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22.

Martinelli P et. al. (1993) Familial idiopathic strio-pallido-dentate calcifications with late onset extrapyramidal syndrome.

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23.

Kobari M et. al. (1997) Familial idiopathic brain calcification with autosomal dominant inheritance.

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24.

Manyam BV et. al. (2001) Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry.

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25.

Manyam BV et. al. (2001) Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis.

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26.

None (1957) Familial calcification of the basal ganglia with response to parathormone.

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27.

None (1958) [Familial symmetrical brain calcification].

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28.

NICHOLS FL et. al. (1961) Familial hypocalcemia, latent tetany and calcification of the basal ganglia. Report of a kindred.

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29.

BRUYN GW et. al. () FAMILIAL BILATERAL VASCULAR CALCIFICATION IN THE CENTRAL NERVOUS SYSTEM.

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30.

None (1959) Familial calcification of the cerebral basal ganglia and its relation to hypoparathyroidism.

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31.

None (1951) Calcification of the corpus stiatum and dentate nuclei occurring in a family.

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32.

None (2005) What is and what is not 'Fahr's disease'.

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33.

Lester J et. al. (2006) Diffuse intracranial calcinosis: Fahr disease.

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34.

Weisman DC et. al. (2007) Density of the brain, decline of the mind: an atypical case of Fahr disease.

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35.

Yamada M et. al. (2014) Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.

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Update: Sept. 26, 2018