The clinical and genetic spectrum of spinocerebellar ataxia 14
- 12 April 2005
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 64 (7) , 1258-1260
- https://doi.org/10.1212/01.wnl.0000156801.64549.6b
Abstract
Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C γ 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.Keywords
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