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

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

doi:10.1136/jnnp.2004.044115

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

J Neurol Neurosurg Psychiatry. 2005 Dec;76(12):1720-2. doi: 10.1136/jnnp.2004.044115.

Authors

M C Fahey¹, M A Knight, J H Shaw, R J McK Gardner, D du Sart, P J Lockhart, M B Delatycki, P C Gates, E Storey

Affiliation

¹ Department of Neuroscience, Monash University (Alfred Hospital Campus), Commercial Road, Melbourne, Victoria 3004, Australia.

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Australia
DNA Mutational Analysis
Exons
Female
Humans
Male
Middle Aged
Pedigree
Protein Kinase C / genetics*
Spinocerebellar Ataxias / genetics*
Spinocerebellar Ataxias / physiopathology

Substances

protein kinase C gamma
Protein Kinase C