The spinocerebellar ataxias: Clinical aspects and molecular genetics

Antoni Matilla-Dueñas, Marc Corral-Juan, Victor Volpini, Ivelisse Sanchez

    Research output: Contribution to journalArticleResearchpeer-review

    41 Citations (Scopus)

    Abstract

    Spinocerebellar ataxias (SCAs) are a highly heterogeneous group of inherited neurological disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia often accompanied by additional cerebellar and noncerebellar symptoms which in most cases defy differentiation. Molecular causative deficits in at least 31 genes underlie the clinical symptoms in the SCAs by triggering cerebellar and, very frequently, brain stem dysfunction. The identification of the causative molecular deficits enables the molecular diagnosis of the different SCA subtypes and facilitates genetic counselling. Recent scientific advances are shedding light into developing therapeutic strategies. The scope of this chapter is to provide updated details of the spinocerebellar ataxias with particular emphasis on those aspects aimed at facilitating the clinical and genetic diagnoses. © 2012 Landes Bioscience and Springer Science+Business Media.
    Original languageEnglish
    Pages (from-to)351-374
    JournalAdvances in Experimental Medicine and Biology
    Volume724
    DOIs
    Publication statusPublished - 19 Apr 2012

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