SciELO - Scientific Electronic Library Online

 
vol.76 issue8Brazilian Consensus for the Treatment of Multiple Sclerosis: Brazilian Academy of Neurology and Brazilian Committee on Treatment and Research in Multiple SclerosisMargaret Dix, Charles Hallpike and the ‘Lagerungs’ Manoeuvre author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Abstract

MARTINS JUNIOR, Carlos Roberto et al. Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1. Arq. Neuro-Psiquiatr. [online]. 2018, vol.76, n.8, pp.555-562. ISSN 0004-282X.  http://dx.doi.org/10.1590/0004-282x20180080.

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.

Keywords : Spinocerebellar ataxias; ataxin 1; spinocerebellar degenerations.

        · abstract in Portuguese     · text in English     · English ( pdf )