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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.

SUBMITTER: Fahey MC 

PROVIDER: S-EPMC1739431 | biostudies-other | 2005 Dec

REPOSITORIES: biostudies-other

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

Fahey M C MC   Knight M A MA   Shaw J H JH   Gardner R J McK RJ   du Sart D D   Lockhart P J PJ   Delatycki M B MB   Gates P C PC   Storey E E  

Journal of neurology, neurosurgery, and psychiatry 20051201 12

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. ...[more]