Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
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 myoclonus.
Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.
Monique H M
MH
Vlak
Richard J
RJ
Sinke
Gwenda M
GM
Rabelink
Berry P H
BP
Kremer
Bart P C
BP
van de Warrenburg
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution / Q000235:genetics; D001284:Atrophy; D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics; D002531:Cerebellum / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics; D009426:Netherlands; D010375:Pedigree; D010641:Phenotype; D011493:Protein Kinase C / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D014202:Tremor / Q000175:diagnosis / Q000235:genetics; D014633:Valine / Q000235:genetics; D000099293:Protein Kinase C-lambda
D018698:Glutamic Acid; D007527:Isoenzymes; D011493:Protein Kinase C; D014633:Valine; D000099293:Protein Kinase C-lambda