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