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Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia

From the Departments of Neurology (J.C.J., Y.H.C., R.W.B.) and Human Genetics (H.L., S.F.N.), School of Medicine, University of California, Los Angeles.

Address correspondence and reprint requests to Dr Jen, UCLA Department of Neurology, 710 Westwood Plaza, Box 951769, Los Angeles, CA 90095-1769; e-mail: jjen{at}ucla.edu

We studied a family with nonprogressive congenital ataxia (NPCA) previously reported in 1985. Follow-up evaluation documented a nonprogressive course. Older family members developed ataxic spells and vertical oscillopsia triggered by stress and exercise. Linkage analysis using a 10K single-nucleotide polymorphism array found suggestive linkage to four loci on chromosomes 1q44, 5q35.1-35.3, 7q36.2-36.3, and 9q31.2-32 and ruled out linkage to the NPCA locus on 3p, proving genetic heterogeneity for autosomal dominant NPCA.

Supported by NIH grant DC02952.

Disclosure: The authors report no conflicts of interest.

Received May 11, 2006. Accepted in final form July 10, 2006.