Chapter

Neurodegenerative Diseases

Volume 724 of the series Advances in Experimental Medicine and Biology pp 351-374

The Spinocerebellar Ataxias: Clinical Aspects And Molecular Genetics

  • Antoni Matilla-DueñasAffiliated withBasic, Translational and Neurogenetics Research Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona Email author 
  • , Marc Corral-JuanAffiliated withBasic, Translational and Neurogenetics Research Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona
  • , Victor VolpiniAffiliated withMolecular Diagnosis Center of Inherited Diseases, Institut d’Investigacions Biomèdiques de Bellvitge (IDIBELL), L’Hospitalet de Llobregat
  • , Ivelisse SanchezAffiliated withBasic, Translational and Neurogenetics Research Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona

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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.