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Am J Hum Genet. 1999 Sep;65(3):764-72.

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

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1
Neurogenetics Program, UCLA School of Medicine, Los Angeles, CA 90095-1769, USA. dhg@ucla.edu

Abstract

Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative syndrome that is associated with a variety of movement disorders and neurobehavioral and cognitive manifestations. Despite numerous clinical, pathological, and biochemical investigations, its etiology remains unknown. 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). A maximum two-point LOD score of 3.37 was obtained at marker D14S1014, and a maximum multipoint LOD score of 4.95 was obtained between D14S75 and D14S306. The minimal haplotype shared by affected patients extended over a 17.1-cM region bounded by D14S70 and D14S66, which is potentially further narrowed to a 13.3-cM region by a recombination observed in a patient with probable affected status. The age at onset appeared to be decreasing by an average of >20 years with each transmission, which is consistent with genetic anticipation.

PMID:
10441584
PMCID:
PMC1377984
DOI:
10.1086/302558
[Indexed for MEDLINE]
Free PMC Article
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