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Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis

✍ Scribed by J. Infante; O. Combarros; V. Volpini; J. Corral; J. Llorca; J. Berciano

Book ID: 109337194
Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 178 KB
Volume: 111
Category: Article
ISSN: 0001-6314
DOI: 10.1111/j.1600-0404.2005.00400.x

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Autosomal dominantly inherited ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders. The gene involved in one subtype, spinocerebellar ataxia 1 (SCA l), was first localized to chromosome 6p. An unstable CAG repeat has been identified as the responsible mutation