The Spinocerebellar Ataxias: Clinical Aspects And Molecular Genetics

  • Antoni Matilla-Dueñas
  • Marc Corral-Juan
  • Victor Volpini
  • Ivelisse Sanchez
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 724)

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.

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Copyright information

© Landes Bioscience and Springer Science+Business Media 2012

Authors and Affiliations

  • Antoni Matilla-Dueñas
    • 1
  • Marc Corral-Juan
    • 1
  • Victor Volpini
    • 2
  • Ivelisse Sanchez
    • 1
  1. 1.Basic, Translational and Neurogenetics Research Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias i Pujol (IGTP)Universitat Autònoma de BarcelonaBarcelonaSpain
  2. 2.Molecular Diagnosis Center of Inherited Diseases, Institut d’Investigacions Biomèdiques de Bellvitge (IDIBELL)L’Hospitalet de LlobregatBarcelonaSpain

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