Article
Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1.
Arquivos de neuro-psiquiatria - 1 Sept 1996
Lopes-Cendes I, Steiner C E, Silveira I, Pinto Júnior W, Maciel J A, Rouleau G A
Abstract excerpt
The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of late onset neurodegenerative disorders. To date, seven different genes causing autosomal dominant SCA have been mapped: SCA1, SCA2, Machado-Joseph disease (MJD)SCA3, SCA4, SCA5, SCA7 and dentatorubropallidoluysian atrophy (DRPLA). Expansions of an unstable trinucleotide CAG repeat cause three of these disorders: SCA1,...
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