Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia
Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia
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DOI：
10.1212/01.wnl.0000242705.06416.6a
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发表时间：
2006-11-14
期刊：
影响因子：
9.9
通讯作者：
Baloh, R. W.
中科院分区：
文献类型：
--
作者：
Jen, J. C.;Lee, H.;Baloh, R. W.
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.
