The clinical and genetic spectrum of spinocerebellar ataxia 14.
Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described.
Chen
D-H
DH
Departments of Neurology, University of Washington, Seattle, USA.
Cimino
P J
PJ
Ranum
L P W
LP
Zoghbi
H Y
HY
Yabe
I
I
Schut
L
L
Margolis
R L
RL
Lipe
H P
HP
Feleke
A
A
Matsushita
M
M
Wolff
J
J
Morgan
C
C
Lau
D
D
Fernandez
M
M
Sasaki
H
H
Raskind
W H
WH
Bird
T D
TD
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D011493:Protein Kinase C / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology
D022821:RNA Splice Sites; C087857:protein kinase C gamma; D011493:Protein Kinase C