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The Spinocerebellar Ataxias: Clinical Aspects And Molecular Genetics

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Neurodegenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((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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Authors and Affiliations

  1. Basic, Translational and Neurogenetics Research Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona, Barcelona, Spain

    Antoni Matilla-Dueñas, Marc Corral-Juan & Ivelisse Sanchez

  2. Molecular Diagnosis Center of Inherited Diseases, Institut d’Investigacions Biomèdiques de Bellvitge (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain

    Victor Volpini

Authors
  1. Antoni Matilla-Dueñas
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  2. Marc Corral-Juan
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  3. Victor Volpini
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  4. Ivelisse Sanchez
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Corresponding author

Correspondence to Antoni Matilla-Dueñas .

Editor information

Editors and Affiliations

  1. School of Science and Technology, Nottingham Trent University, Nottingham, UK

    Shamim I. Ahmad BSc, MSc, PhD

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© 2012 Landes Bioscience and Springer Science+Business Media

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Matilla-Dueñas, A., Corral-Juan, M., Volpini, V., Sanchez, I. (2012). The Spinocerebellar Ataxias: Clinical Aspects And Molecular Genetics. In: Ahmad, S.I. (eds) Neurodegenerative Diseases. Advances in Experimental Medicine and Biology, vol 724. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-0653-2_27

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