Article
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).
European journal of human genetics : EJHG - 1 Dec 1999
Stevanin G, David G, Dürr A, Giunti P, Benomar A, Abada-Bendib M, Lee M S, Agid Y, Brice A
Abstract excerpt
Spinocerebellar ataxia 7 (SCA7) is a neurodegenerative disease characterised by the association of cerebellar ataxia and, in most patients, progressive macular degeneration leading to loss of autonomy and blindness. The patients die after 5-30 years of evolution. The cause of the disease has been identified as a (CAG)n repeat expansion in the coding sequence of the SCA7 gene on chromosome 3p. De novo mutations...
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