The clinical and genetic spectrum of spinocerebellar ataxia 14
- 12 April 2005
- journal article
- Published by Ovid Technologies (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
This publication has 8 references indexed in Scilit:
- Mutation in the Catalytic Domain of Protein Kinase C γ and Extension of the Phenotype Associated With Spinocerebellar Ataxia Type 14Archives of Neurology, 2004
- Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia familyNeurology, 2003
- Spinocerebellar Ataxia Type 14 Caused by a Mutation in Protein Kinase C γArchives of Neurology, 2003
- Interaction of Akt-Phosphorylated Ataxin-1 with 14-3-3 Mediates Neurodegeneration in Spinocerebellar Ataxia Type 1Cell, 2003
- Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar AtaxiaAmerican Journal of Human Genetics, 2003
- A New Dominant Spinocerebellar Ataxia Linked to Chromosome 19q13.4-qterArchives of Neurology, 2002
- Altered Trafficking of Membrane Proteins in Purkinje Cells of SCA1 Transgenic MiceThe American Journal of Pathology, 2001
- Impaired motor coordination correlates with persistent multiple climbing fiber innervation in PKCγ mutant miceCell, 1995