Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. Issue 12 (16th November 2005)

• Record Type: Journal Article
• Authors: Fahey, M C; Knight, M A; Shaw, J H; Gardner, R J McK; du Sart, D; Lockhart, P J; Delatycki, M B; Gates, P C; Storey, E
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 76:Issue 12(2005)
• Page Start: 1720
• Page End: 1722
• Publication Date: 2005-11-16
• Subjects: ADCA, autosomal dominant cerebellar ataxia -- PRKCG gene, protein kinase C gamma gene -- SCA, spinocerebellar ataxia -- VOR, vestibulo-ocular reflex; PRKCG -- SCA 14 -- spinocerebellar ataxia; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2004.044115
• Languages: English
• ISSNs: 0022-3050

Abstract

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.