Mutation in the Catalytic Domain of Protein Kinase C γ and Extension of the Phenotype Associated With Spinocerebellar Ataxia Type 14

Abstract

Inherited cerebellar ataxias are clinically and genetically heterogeneous. For the autosomal dominant forms, at least 23 loci have been implicated: spinocerebellar ataxia (SCA) 1-8, SCA10-18, SCA19/22, SCA20, SCA21, SCA23, SCA25, and the FGF14 gene–related SCA.^1-3