Autosomal dominant cerebellar ataxias are a heterogeneous group of movement disorders characterized by progressive ataxia variably associated with other neurological symptoms. The SCA14 locus was first mapped to chromosome 19q1 and the responsible gene, PRKCG, encodes protein kinase Cγ (PKCγ), a serine/threonine kinase that is strongly expressed in the brain.2 The phenotype described up to the present includes cerebellar ataxia, with a wide range of ages at onset, that progresses very slowly and does not affect life span. The cerebellar syndrome is variably associated with hyperreflexia,1,3,4 axial or peripheral myoclonus,1 focal dystonia,4 and cognitive decline.3 So far, 19 missense mutations and an in-frame deletion have been found in the PRKCG gene.5-7 In the present study, we detected a novel mutation in exon 4 of PKCγ in a French family and herein describe the associated phenotype.
Klebe S, Faivre L, Forlani S, et al. Another Mutation in Cysteine 131 in Protein Kinase Cγ as a Cause of Spinocerebellar Ataxia Type 14. Arch Neurol. 2007;64(6):913–914. doi:https://doi.org/10.1001/archneur.64.6.913
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