Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.

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.

• Authors: M C Fahey, M A Knight, J H Shaw, R J McK Gardner, D du Sart, P J Lockhart, M B Delatycki, P C Gates, E Storey
• Journal: Journal of neurology, neurosurgery, and psychiatry (J Neurol Neurosurg Psychiatry) Vol. 76 Issue 12 Pg. 1720-2 (Dec 2005) ISSN: 0022-3050 [Print] England
• PMID: 16291902 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• protein kinase C gamma
• Protein Kinase C

Topics

• Adult
• Australia
• DNA Mutational Analysis
• Exons
• Female
• Humans
• Male
• Middle Aged
• Pedigree
• Protein Kinase C (genetics)
• Spinocerebellar Ataxias (genetics, physiopathology)