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

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 76; no. 12; pp. 1720 - 1722
• Main 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
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-12-2005; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: ADCA; Adult; Ataxia; Australia; autosomal dominant cerebellar ataxia; Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Diseases of striated muscles. Neuromuscular diseases; DNA Mutational Analysis; Dysarthria; Exons; Eye movements; Female; Gait; Humans; Kinases; Male; Medical sciences; Middle Aged; Mutation; Neurology; Pedigree; PRKCG; PRKCG gene; Protein Kinase C - genetics; protein kinase C gamma gene; SCA; SCA 14; Short Report; spinocerebellar ataxia; Spinocerebellar Ataxias - genetics; Spinocerebellar Ataxias - physiopathology; vestibulo-ocular reflex; VOR; Australia; Nervous system diseases; Exon; Family study; Spinocerebellar ataxia; Central nervous system disease; Degenerative disease; Mutation; Genetic disease
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp.2004.044115

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.