Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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
Arts-Syndrom
Autismus
Autosomal dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie
Autosomal rezessive spastische Paraplegie 44
Brunner-Syndrom
Charcot-Marie-Tooth-Hoffmann-Krankheit
Epileptische Syndrome
Erbliche Erkrankungen der Muskeln
Gliom-Neigung
Hereditäre Hirntumoren
Hereditäre benigne Chorea
Hereditäre distale Motorneuronen-Neuropathie Typ 5A
Hereditäre sensorisch-autonome Neuropathie Typ 2A
Hereditäre sensorische Neuropathie Typ 1E
Hirnmalformation mit Urogenitaldefekten
Hypokalämische periodische Paralyse 1
Hypomyelinisierte Leukodystrophy 2
Idiopathische Kalzifikation der Basalganglien 1
SLC20A2
Kongenitale Schmerzunempfindlichkeit mit Anhidrose
Migräne
Nemaline-Myopathy 5
Neonatale Enzephalopathie mit Mikrozephalie
Panzytopenisches Ataxie-Syndrom
Porenzephalie
Rett-Syndrom
Spastische Paraplegie 17 mit Amyotrophie der Hände und Füße
Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
Tuberöse Sklerose Komplex
Vaskuläre Demenz
X-chromosomale syndromale mentale Retardierung 13
Zerebrale Mikroangiopathie mit Blutung

Referenzen:

1.

None (1958) [Familial symmetrical brain calcification].

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
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.

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

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

external link
32.

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

external link
33.

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

external link
34.

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

external link
35.

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

external link
36.

OMIM.ORG article

Omim 213600 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum