Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.

Abstract

We describe a novel mutation in the gene coding for protein kinase C gamma (PRKCG) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of PRKCG and results in a substitution of glycine by valine (G63V) in the evolutionarily highly conserved cysteine-rich region 1/C1 domain of PRKCG. Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG.

• Authors: Dagmar Nolte, Melanie Landendinger, Eberhard Schmitt, Ulrich Müller
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 22 Issue 2 Pg. 265-7 (Jan 15 2007) ISSN: 0885-3185 [Print] United States
• PMID: 17149711 (Publication Type: Case Reports, Journal Article)
• Copyright: (c) 2006 Movement Disorder Society.

Chemical References

• protein kinase C gamma
• Protein Kinase C

Topics

• DNA Mutational Analysis
• Exons (genetics)
• Germany
• Humans
• Male
• Middle Aged
• Pedigree
• Point Mutation (genetics)
• Protein Kinase C (genetics)
• Rare Diseases
• Signal Transduction
• Spinocerebellar Ataxias (classification, genetics)