Article
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients.
Arquivos de neuro-psiquiatria - 1 Sept 1997
Lopes-Cendes I, Teive H G, Calcagnotto M E, Da Costa J C, Cardoso F, Viana E, Maciel J A, Radvany J, Arruda W O, Trevisol-Bittencourt P C, Rosa Neto P, Silveira I, Steiner C E, Pinto Júnior W, Santos A S, Correa Neto Y, Werneck L C, Araújo A Q, Carakushansky G, Mello L R, Jardim L B, Rouleau G A
Abstract excerpt
Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an...
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