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Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene
  1. M C Fahey2,*,
  2. M A Knight2,*,
  3. J H Shaw1,
  4. R J McK Gardner1,
  5. D du Sart1,
  6. P J Lockhart3,
  7. M B Delatycki3,
  8. P C Gates4,
  9. E Storey1,5
  1. 1Genetic Health Services Victoria, Melbourne, Australia
  2. 2Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia
  3. 3Bruce Lefroy Centre for Genetic Health Research, Royal Children’s Hospital, Melbourne, Australia
  4. 4Department of Neuroscience, Barwon Health, Geelong, Australia
  5. 5Department of Medicine (Neuroscience), Alfred Hospital Campus of Monash University, Melbourne, Australia
  1. Correspondence to:
 Professor Elsdon Storey
 Department of Neuroscience, Monash University (Alfred Hospital Campus), Commercial Road, Melbourne, Victoria 3004, Australia; elsdon.storeymed.monash.edu.au

Abstract

We report our observations in an Australian family with spinocerebellar ataxia type 14 (SCA 14). We describe a novel mutation in exon 5 of the PRKCG gene, altering a highly conserved cysteine to a phenylalanine at codon 150, and record the detailed clinical observations in six affected family members.

  • ADCA, autosomal dominant cerebellar ataxia
  • PRKCG gene, protein kinase C gamma gene
  • SCA, spinocerebellar ataxia
  • VOR, vestibulo-ocular reflex
  • PRKCG
  • SCA 14
  • spinocerebellar ataxia

https://doi.org/10.1136/jnnp.2004.044115

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    Footnotes

    • ↵* These authors contributed equally to this work.

    • The study was supported by the Murdoch Childrens Research Institute.

    • Competing interests: none declared

    • The subjects mentioned in this paper have agreed to their details being published.