Article
Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy.
Archives of neurology - 1 Nov 2001
Cellini E, Nacmias B, Forleo P, Piacentini S, Guarnieri B M, Serio A, Calabrò A, Renzi D, Sorbi S
Abstract excerpt
BACKGROUND: The spinocerebellar ataxias (SCAs) are clinically heterogeneous disorders caused by triplet repeat expansions in the sequence of specific disease genes. Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia with slow disease progression, presents with expansion of combined CTA/CTG repeats. OBJECTIVE: To perform SCA8 repeat expansion analysis in...
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