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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2018; 76(08): 555-562
DOI: 10.1590/0004-282X20180080
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Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Vinte e cinco anos desde a identificação do primeiro gene das SCAs: história, aspectos clínicos e perspectivas para a SCA1
Carlos Roberto Martins Junior
1   Universidade de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brasil;
,
Fabrício Castro de Borba
1   Universidade de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brasil;
,
Alberto Rolim Muro Martinez
1   Universidade de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brasil;
,
Thiago Junqueira Ribeiro de Rezende
1   Universidade de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brasil;
,
Iscia Lopes Cendes
2   Universidade de Campinas, Faculdade de Ciências Médicas, Departamento de Genética Médica, Campinas SP, Brasil;
,
José Luiz Pedroso
3   Universidade Federal de São Paulo, Unidade de Ataxia, Departamento de Neurologia, São Paulo SP, Brasil.
,
Orlando Graziani Povoas Barsottini
3   Universidade Federal de São Paulo, Unidade de Ataxia, Departamento de Neurologia, São Paulo SP, Brasil.
,
Marcondes Cavalcante França Júnior
1   Universidade de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brasil;
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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 different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are still unclear. The aim of this article is to review, from an historical point of view, the first CAG-related ataxia to be genetically described: SCA 1.

RESUMO

As ataxias espinocerebelares (SCA) são um grupo clínico e geneticamente heterogêneo de doenças monogênicas que compartilham ataxia e herança autossçmica dominante como características principais. Uma proporção importante de SCAs é causada por expansões de repetição de trinucleotídeos CAG na região de codificação de diferentes genes. Além da heterogeneidade genética, os aspectos clínicos transcendem os sintomas motores, incluindo aspectos cognitivos, eletrofisiológicos e de imagem. Apesar de todo o progresso feito nos últimos 25 anos, os mecanismos que determinam como se dá a morte neuronal mediada por essas expansões instáveis ainda não estão claros. O objetivo deste artigo é revisar, de um ponto de vista histórico, a primeira ataxia geneticamente relacionada com o CAG descrita: SCA 1.

Keywords:

Spinocerebellar ataxias - ataxin 1 - spinocerebellar degenerations

Palavras-chave:

ataxias espinocerebelares - ataxina 1 - degenerações espinocerebelares

Support

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) (Grant #13/01766-7 and #2014/19786-7) and Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).




Publication History

Received: 18 February 2018

Accepted: 04 June 2018

Article published online:
23 August 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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