Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.
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.
Fahey
M C
MC
Department of Neuroscience, Monash University (Alfred Hospital Campus), Commercial Road, Melbourne, Victoria 3004, Australia.
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
D000328:Adult; D001315:Australia; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011493:Protein Kinase C / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000503:physiopathology
C087857:protein kinase C gamma; D011493:Protein Kinase C