title: The clinical and genetic spectrum of spinocerebellar ataxia 14.
abstract: 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.
authors.affiliation: Departments of Neurology, University of Washington, Seattle, USA.
authors.forename: D-H
authors.initials: DH
authors.lastname: Chen
authors.forename: P J
authors.initials: PJ
authors.lastname: Cimino
authors.forename: L P W
authors.initials: LP
authors.lastname: Ranum
authors.forename: H Y
authors.initials: HY
authors.lastname: Zoghbi
authors.forename: I
authors.initials: I
authors.lastname: Yabe
authors.forename: L
authors.initials: L
authors.lastname: Schut
authors.forename: R L
authors.initials: RL
authors.lastname: Margolis
authors.forename: H P
authors.initials: HP
authors.lastname: Lipe
authors.forename: A
authors.initials: A
authors.lastname: Feleke
authors.forename: M
authors.initials: M
authors.lastname: Matsushita
authors.forename: J
authors.initials: J
authors.lastname: Wolff
authors.forename: C
authors.initials: C
authors.lastname: Morgan
authors.forename: D
authors.initials: D
authors.lastname: Lau
authors.forename: M
authors.initials: M
authors.lastname: Fernandez
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: W H
authors.initials: WH
authors.lastname: Raskind
authors.forename: T D
authors.initials: TD
authors.lastname: Bird
mesh_terms: 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
chemical_list: D022821:RNA Splice Sites; C087857:protein kinase C gamma; D011493:Protein Kinase C