Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients Freqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients Freqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros

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 regi...

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Main Authors: Iscia Lopes-Cendesi, Hélio G.A. Teive, Maria E Calcagnotto, Jaderson C. da Costa, Francisco Cardoso, Erika Viana, Jaime A. Maciel, João Radvany, Walter O. Arruda, Paulo C. Trevisol-Bittencourt, Pedro Rosa Neto, Isabel Silveira, Carlos E. Steiner, Walter Pinto-Júnior, André S. Santos, Ylmar Correa Neto, Lineu C. Werneck, Abelardo Q.C. Araújo, Gerson Carakushansky, Luiz R. Mello, Laura B. Jardim, Guy A. Rouleau
Format: Article
Language:English
Published: Thieme Revinter Publicações 1997-09-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
doença neurodegenerativa
ataxia espinocerebelar tipo 1
ataxia espinocerebelar tipo 2
ataxia espinocerebelar tipo 3
doença de Machado-Joseph
atrofia dentatorubropalidoluisiana
expansão de trinucleotídeo CAG
neurodegenerative disease
spinocerebellar ataxia type 1
spinocerebellar ataxia type 2
spinocerebellar ataxia type 3
Machado-Joseph disease
dentatorubropallidoluysian atrophy
trinucleotide repeat expansion
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1997000400001
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