A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients

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...

mutation 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...

Mutation 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...

Idiopathic familial basal ganglia calcification associated with juvenile hypertension.

Familial 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...