Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 17101914.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
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.
Medical subject headings
- Cerebellar Ataxia
- Cerebellum
- Genetic Predisposition to Disease
- Polymorphism, Genetic