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

@article{Vlak2006NovelPM,
  title={Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.},
  author={Monique H. M. Vlak and Richard J Sinke and Gwenda M. Rabelink and Berry P. H. Kremer and Bart P. C. van de Warrenburg},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  year={2006},
  volume={21 7},
  pages={1025-8}
}
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 very mild nonprogressive ataxia since the age of 3 years and predominant multifocal… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 18 extracted citations

Other spinocerebellar ataxias.

Handbook of clinical neurology • 2012
View 4 Excerpts
Highly Influenced

Spinocerebellar ataxia type 14.

Handbook of clinical neurology • 2012
View 5 Excerpts
Highly Influenced

EFNS / ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

B. P. C. van de Warrenburga, J. van Gaalena, +6 authors O. Riessk
2014

Brain pathology of spinocerebellar ataxias

Acta Neuropathologica • 2012
View 1 Excerpt

Similar Papers

Loading similar papers…