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Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family
Author(s) -
Nolte Dagmar,
Landendinger Melanie,
Schmitt Eberhard,
Müller Ulrich
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21269
Subject(s) - exon , missense mutation , genetics , mutation , spinocerebellar ataxia , ataxia , gait ataxia , biology , gene , neuroscience
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 . © 2006 Movement Disorder Society