Article
Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.
European journal of neurology - 1 Jan 2010
Vale J, Bugalho P, Silveira I, Sequeiros J, Guimarães J, Coutinho P
Abstract excerpt
BACKGROUND AND PURPOSE: The relative frequency of the different autosomal dominant cerebellar ataxia (ADCA) varies widely amongst different geographic locations. Here we describe a series of 45 ADCA families from Portugal. METHODS: Patients with progressive cerebellar dysfunction of autosomal dominant transmission underwent a clinical examination protocol and genetic testing for spinocerebellar ataxia (SCA)1 to...
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