Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Idiopathische Kalzifikation der Basalganglien 1

Die idiopathische Kalzifikation der Basalganglien 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im SCL20A2-Gen hervorgerufen wird.

Gliederung

Erbliche Nervenerkrankungen
Alzheimer Erkrankung
Autismus
Autosomal dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie
Autosomal rezessive spastische Paraplegie 44
Brunner-Syndrom
Hereditäre distale Motorneuronen-Neuropathie Typ 5A
Hereditäre sensorisch-autonome Neuropathie Typ 2A
Hereditäre sensorische Neuropathie Typ 1E
Hypokalämische periodische Paralyse 1
Hypomyelinisierte Leukodystrophy 2
Idiopathische Kalzifikation der Basalganglien 1
SLC20A2
Inkludionskörpermyopathie 2
Nemaline-Myopathy 5
Neonatale Enzephalopathie mit Mikrozephalie
Nonaka-Myopathie
Porenzephalie
Rett-Syndrom
Spastische Paraplegie 17 mit Amyotrophie der Hände und Füße
Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
X-chromosomale syndromale mentale Retardierung 13
Zerebrale Mikroangiopathie mit Blutung

Referenzen:

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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