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Updated: Jul 18, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
The clinical and genetic spectrum of spinocerebellar ataxia 14
D-H Chen1, P J Cimino, L P W Ranum
1Departments of Neurology, University of Washington, Seattle, USA.
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.
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