Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

ABSTRACT Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of diffe...

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Bibliographic Details
Main Authors: Carlos Roberto Martins Junior, Fabrício Castro de Borba, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Iscia Lopes Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Marcondes Cavalcante França Júnior
Format: Article
Language:English
Published: Academia Brasileira de Neurologia (ABNEURO)
Series:Arquivos de Neuro-Psiquiatria
Subjects:
Spinocerebellar ataxias
ataxin 1
spinocerebellar degenerations
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000800555&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000800555&lng=en&tlng=en

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