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Article

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

Archives of neurology - 1 Aug 2004

Stevanin Giovanni, Hahn Valérie, Lohmann Ebba, Bouslam Naima, Gouttard Michel, Soumphonphakdy Caroline, Welter Marie-Laure, Ollagnon-Roman Elisabeth, Lemainque Arnaud, Ruberg Merle, Brice Alexis, Durr Alexandra

Abstract excerpt

BACKGROUND: Autosomal dominant cerebellar ataxias comprise a clinically, neuropathologically, and genetically heterogeneous group of neurodegenerative disorders. The vast majority of cases are caused by trinucleotide or pentanucleotide repeat expansions in 9 different genes. Spinocerebellar ataxi...

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Source

Identifiers

PMID: 15313841
DOI: 10.1001/archneur.61.8.1242

Genes

PRKCG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15313841-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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