THE GENETICS OF IDIOPATHIC BASAL GANGLIA CALCIFICATION

University Of California Los Angeles, Los Angeles CA

Investigators

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Abstract

DESCRIPTION (adapted from applicant's abstract):The core features of idiopathic basal ganglia calcifications (IBGC) or Fahr's disease are dystonia, parkinsonism and neurobehavioral abnormalities that are associated with calcifications visible on CT scan of the brain. Familial IBGC shows mostly an autosomal dominant mode of inheritance. The investigators have mapped a locus on chr.14q in one large multiplex family. In two other families linkage to chr.14 has been excluded, demonstrating genetic heterogeneity. The minimal critical region (MCR) on chr.14 is 15 or probably 10cM. The investigators propose to narrow down the MCR by collecting additional family members of the original pedigree as well as other families. Physical mapping and candidate screening for mutations will be pursued as the region is narrowed to identify the IBGC gene. A genome scan will be performed in families who are not linked to the chr.14 locus.