Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
Identifieur interne : 003350 ( Istex/Corpus ); précédent : 003349; suivant : 003351Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
Auteurs : Monique H. M. Vlak ; Richard J. Sinke ; Gwenda M. Rabelink ; Berry P. H. Kremer ; Bart P. C. Van De WarrenburgSource :
- Movement Disorders [ 0885-3185 ] ; 2006-07.
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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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DOI: 10.1002/mds.20851
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ISTEX:9F8D3C349B635FB5495CD43D9254E17BFA647740Le document en format XML
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