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GENATLAS PHENOTYPE

last update : 19-05-2015

Symbol	SCA14
Location	19q13
HGNC id	10553
Name	spinocerebellar ataxia 14
Corresponding gene	PRKCG
Main clinical features	late onset, cerebellar ataxia with atrophy confined to the cerebellum, slowly progressive, with dystonia or myoclonic movements
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	protein kinase C, gamma

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			F643L located in the catalytic domain of the enzyme

Remark(s)

Purkinje cell damage in SCA14 may result from a reduction of PRKCG activity due its aberrant sequestration in the early endosome compartment (PMID: 18503760))

Genotype/Phenotype correlations

(F643L) leading to wide range of ages at onset, presence of myoclonus in the limbs, and of cognitive impairment H101Q causes slowly progressive uncomplicated ataxia by interfering with PKCgamma stability or solubility, which consequently may cause in either case a decrease in the overall PKCgamma-dependent phosphorylation