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Another Mutation in Cysteine 131 in Protein Kinase C as a Cause of Spinocerebellar Ataxia Type 14

Stephan Klebe, MD; Laurence Faivre, MD; Sylvie Forlani, PhD; Christel Dussert, BS; Ayman Tourbah, MD; Alexis Brice, MD; Giovanni Stevanin, PhD; Alexandra Durr, MD, PhD

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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 C (PKC), 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 . . . [Full Text of this Article]

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Enzymological Analysis of Mutant Protein Kinase C{gamma} Causing Spinocerebellar Ataxia Type 14 and Dysfunction in Ca2+ Homeostasis
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J. Biol. Chem. 2008;283:19854-19863.
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