Article
Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.
Archives of neurology - 1 Nov 2001
Sinke R J, Ippel E F, Diepstraten C M, Beemer F A, Wokke J H, van Hilten B J, Knoers N V, van Amstel H K, Kremer H P
Abstract excerpt
BACKGROUND: Autosomal dominant cerebellar ataxias (ADCAs), or spinocerebellar ataxias (SCAs), are a heterogeneous group of neurodegenerative disorders. Mild CAG repeat expansions in the alpha(1A) voltage-dependent calcium channel gene are associated with SCA type 6 (SCA6). OBJECTIVE: To obtain further insight into the contribution of SCA6 mutations to the phenotypic variability in Dutch patients with ataxia....
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