Disease relevance of IBGC1

• Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative syndrome that is associated with a variety of movement disorders and neurobehavioral and cognitive manifestations [1].
• There was no significant association between IBGC status and severe cognitive impairment or dementia ( P=0.335) or bipolar affective disorder or Parkinsonism ( P=1.0) [2].
• First recognized in progressive supranuclear palsy and Huntington's disease, the concept has been extended to account for the intellectual impairment of Parkinson's disease, Wilson's disease, spinocerebellar degenerations, idiopathic basal ganglia calcification, the lacunar state, and the dementia syndrome of depression [3].
• Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea, and dystonia [4].

Psychiatry related information on IBGC1

• Idiopathic basal ganglia calcification and organic mood disorder [5].
• Sequencing of the gene in a third patient diagnosed with IBGC, schizophrenia, and mild learning disability did not reveal functional mutations [6].

High impact information on IBGC1

• We have identified a multigenerational family with dominantly inherited IBGC and, in 24 members of this family, performed a whole-genome scan using polymorphic microsatellite markers to identify the first chromosomal locus for this disorder (IBGC1) [1].
• Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease) [1].
• Idiopathic basal ganglia calcification is a syndrome consisting of bilateral basal ganglia calcifications, neuropsychiatric abnormalities, disturbances of movement, and normal calcium and phosphorus metabolism [5].
• We identified two novel SNPs in the intron-exon boundaries; however, they did not segregate only with affected subjects in the predicted model of an autosomal dominant disease such as IBGC [7].
• The associations between these abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptibility locus for IBGC ( IBGC1) [2].

Biological context of IBGC1

• Genome search data showed no evidence of linkage to the previously described loci IBGC1, DYT1, and DYT12 [8].
• Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease) [9].

References