Article
Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds.
Archives of neurology - 1 Sept 1997
Schöls L, Gispert S, Vorgerd M, Menezes Vieira-Saecker A M, Blanke P, Auburger G, Amoiridis G, Meves S, Epplen J T, Przuntek H, Pulst S M, Riess O
Abstract excerpt
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia (ADCA) for which the disease-causing mutation has recently been characterized as an expanded CAG trinucleotide repeat. We investigated 64 families of German ancestry with ADCA and 55 patients with sporadic ataxia for the SCA2 mutation. RESULTS: Expanded alleles were found in 6 of the 64 families and in 1 patient with...
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