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.
Highlights
Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features
The term spinocerebellar ataxia (SCA) remained from those early attempts to classify the autosomal dominant cerebellar ataxias (ADCA), and nowadays they are used as synonyms
From the 1970s to the 1980s, strong evidence came out supporting that the causative gene of at least that form of ADCA was related to the HLA human complex
Summary
Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1. Carlos Roberto Martins Junior[1], Fabrício Castro de Borba[1], Alberto Rolim Muro Martinez[1], Thiago Junqueira Ribeiro de Rezende[1], Iscia Lopes Cendes[2], José Luiz Pedroso[3], Orlando Graziani Povoas Barsottini[3], Marcondes Cavalcante França Júnior[1]
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