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The spinocerebellar ataxias: clinical aspects and molecular genetics.
MedLine Citation:
PMID:  22411256     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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.
Authors:
Antoni Matilla-Dueñas; Marc Corral-Juan; Victor Volpini; Ivelisse Sanchez
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Advances in experimental medicine and biology     Volume:  724     ISSN:  0065-2598     ISO Abbreviation:  Adv. Exp. Med. Biol.     Publication Date:  2012  
Date Detail:
Created Date:  2012-03-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0121103     Medline TA:  Adv Exp Med Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  351-74     Citation Subset:  IM    
Affiliation:
Basic, Translational and Neurogenetics Research Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona, Barcelona, Spain, amatilla@igtp.cat.
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