Article
Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.
Journal of tropical pediatrics - 1 Oct 2008
Mutesa Léon, Pierquin Geneviève, Segers Karin, Vanbellinghen Jean François, Gahimbare Laetitia, Bours Vincent
Abstract excerpt
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease that results from the expansion of an unstable trinucleotide CAG repeat encoding for a polyglutamine tract. In normal individuals, alleles contain between 14 and 31 CAG repeats, whereas the pathological alleles have more than 35 CAG repeats. The clinical phenotype of SCA2 includes a progressive cerebellar ataxia with...
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