Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia

J. C. Jen, H. Lee, Y. H. Cha, S. F. Nelson, R. W. Baloh

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1704-1706
Number of pages3
Issue number9
StatePublished - Nov 2006
Externally publishedYes


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