Article
Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2006
Vlak Monique H M, Sinke Richard J, Rabelink Gwenda M, Kremer Berry P H, van de Warrenburg Bart P C
Abstract excerpt
We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCgamma. While most affected subjects displayed a late-onset uncomplicated form of spinocerebellar ataxia with occasional mild extrapyramidal features (such as postural tremor), one patient presented with a...
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