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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| Language: | English |
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Thieme Revinter Publicações
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000800555&lng=en&tlng=en |
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| author | 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 |
| author_facet | 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 |
| author_sort | Carlos Roberto Martins Junior |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-31cdaa93775842e88869dcf8b58c5585 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-31cdaa93775842e88869dcf8b58c55852025-08-20T02:07:40ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-422776855556210.1590/0004-282x20180080S0004-282X2018000800555Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1Carlos Roberto Martins JuniorFabrício Castro de BorbaAlberto Rolim Muro MartinezThiago Junqueira Ribeiro de RezendeIscia Lopes CendesJosé Luiz PedrosoOrlando Graziani Povoas BarsottiniMarcondes Cavalcante França JúniorABSTRACT 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000800555&lng=en&tlng=enSpinocerebellar ataxiasataxin 1spinocerebellar degenerations |
| spellingShingle | 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 Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1 Arquivos de Neuro-Psiquiatria Spinocerebellar ataxias ataxin 1 spinocerebellar degenerations |
| title | Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1 |
| title_full | Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1 |
| title_fullStr | Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1 |
| title_full_unstemmed | Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1 |
| title_short | Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1 |
| title_sort | twenty five years since the identification of the first sca gene history clinical features and perspectives for sca1 |
| topic | Spinocerebellar ataxias ataxin 1 spinocerebellar degenerations |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000800555&lng=en&tlng=en |
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