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Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype

✍ Scribed by Monique H.M. Vlak; Richard J. Sinke; Gwenda M. Rabelink; Berry P.H. Kremer; Bart P.C. van de Warrenburg

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 128 KB
Volume: 21
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.20851

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✦ Synopsis

Abstract

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 PKCγ. 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 very mild nonprogressive ataxia since the age of 3 years and predominant multifocal myoclonus. © 2006 Movement Disorder Society

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