SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia
نویسندگان
چکیده
منابع مشابه
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification
Familial idiopathic basal ganglia calcification (FIBGC) is a rare, autosomal dominant disorder involving bilateral calcification of the basal ganglia. To identify gene mutations related to a Chinese FIBGC lineage, we evaluated available individuals in the family using CT scans. DNA was extracted from the peripheral blood of available family members, and both exonic and flanking intronic sequenc...
متن کاملmutation analysis of slc20a2 and spp2 as candidate genes for familial idiopathic basal ganglia calcification
background: familial idiopathic basal ganglia calcification (ibgc) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. ibgc is genetically heterogeneous and slc20a2, on chromosome 8p21.1–8q11.23, is the first gene found in ibgc-affected patients with varied ancestry. on the other hand, several candidate genes for ibgc on chromosome 2q37, including t...
متن کاملMutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification
BACKGROUND Familial Idiopathic Basal Ganglia Calcification (IBGC) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. IBGC is genetically heterogeneous and SLC20A2, on chromosome 8p21.1-8q11.23, is the first gene found in IBGC-affected patients with varied ancestry. On the other hand, several candidate genes for IBGC on chromosome 2q37, including th...
متن کاملFamilial idiopathic basal ganglia calcification (Fahr’s disease)
Familial idiopathic basal ganglia calcification (Fahr`s disease) is a rare neurodegenerative disorder characterized by symmetrical and bilateral calcification of the basal ganglia. Calcifications may also occur in other brain regions such as dentate nucleus, thalamus, and cerebral cortex. Both familial and non-familial cases of Fahr`s disease have been reported, predominantly with autosomal-dom...
متن کاملFamilial calcification of the basal ganglia with response to parathormone.
Massive symmetrical calcification of the basal ganglia and dentate nuclei is now a well recognized radiological finding and great emphasis has been laid on its association with hypoparathyroidism (Lowenthal, 1948). While such an association is undeniable the connexion between the two phenomena is ill understood and cannot at present be accepted as invariable. It is the purpose of this paper to ...
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ژورنال
عنوان ژورنال: neurogenetics
سال: 2013
ISSN: 1364-6745,1364-6753
DOI: 10.1007/s10048-013-0378-5