Spinocerebellar Ataxia Type 2

  • 1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections. The degenerative process may additionally involves the ponto- medullar systems, pyramidal tracts, basal ganglia, cerebral cortex, peripheral nerves (ADCA I) and the retina (ADCA II), or can be limited to the cerebellum (ADCA III) (Harding et al., 1993). The most common of these dominantly inherited autosomal ataxias, ADCA I, includes many Spinocerebellar Ataxias (SCA) subtypes, some of which are caused by pathological CAG trinucleotide repeat expansion in the coding region on the mutated gene. Such is the case for SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA17 and Dentatorubral-pallidoluysian atrophy (DRPLA) (Matilla et al., 2006). Among the almost 30 SCAs, the variant SCA2 is the second most prevalent subtype worldwide, only surpassed by SCA3 (Schöls et al., 2004; Matilla et al., 2006; Auburger, 2011)...

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Author:Luis Velázquez-Pérez, Roberto Rodríguez-Labrada, Hans-Joachim Freund, Georg AuburgerORCiDGND
Parent Title (English):Spinocerebellar Ataxia
Place of publication:[Erscheinungsort nicht ermittelbar]
Editor:José Gazulla
Document Type:Part of a Book
Date of Publication (online):2012/04/18
Date of first Publication:2012/04/18
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2013/10/04
First Page:77
Last Page:102
Licensed under a Creative Commons Attribution 3.0 Unported License http://creativecommons.org/licenses/by/3.0/
Institutes:Medizin / Medizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):License LogoCreative Commons - Namensnennung 3.0