Article
Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10.
Archives of neurology - 1 Aug 2002
Grewal Raji P, Achari Madhureeta, Matsuura Tohru, Durazo Alberto, Tayag Emilio, Zu Lan, Pulst Stefan M, Ashizawa Tetsuo
Abstract excerpt
BACKGROUND: Spinocerebellar ataxia type 10, an autosomal dominant disease characterized by ataxia and seizures, is caused by a large expansion of an unstable ATTCT pentanucleotide repeat. OBJECTIVES: To characterize the phenotypic expression of spinocerebellar ataxia type 10 and to examine the genotype-phenotype correlations in 2 large families. DESIGN: Clinical characterization and genotype-phenotype...
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