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

Mov Disord. 2006 Jul;21(7):1025-8. doi: 10.1002/mds.20851.

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 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.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Substitution / genetics
  • Atrophy
  • Basal Ganglia Diseases / diagnosis
  • Basal Ganglia Diseases / genetics
  • Cerebellum / pathology
  • DNA Mutational Analysis*
  • Exons
  • Female
  • Glutamic Acid / genetics
  • Humans
  • Isoenzymes / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation, Missense
  • Myoclonus / diagnosis
  • Myoclonus / genetics
  • Netherlands
  • Pedigree
  • Phenotype*
  • Protein Kinase C / genetics*
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics*
  • Tremor / diagnosis
  • Tremor / genetics
  • Valine / genetics

Substances

  • Isoenzymes
  • Glutamic Acid
  • Protein Kinase C
  • protein kinase C lambda
  • Valine