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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
Ataxia-pancytopenia 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
Epilepsy syndrome
Hereditary benign chorea
Hereditary brain tumors
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
Tuberous sclerosis complex
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

None (1958) [Familial symmetrical brain calcification].

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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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23.

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

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24.

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

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25.

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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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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32.

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

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33.

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

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34.

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

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35.

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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36.

OMIM.ORG article

Omim 213600 external link
Update: Aug. 14, 2020
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