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A novel α-synuclein missense mutation in Parkinson disease.

ABSTRACT: Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation (p.H50Q) in a pathologically proven case.

SUBMITTER: Proukakis C 

PROVIDER: S-EPMC3653201 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature

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Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation (p.H50Q) in a pathologically proven case. ...[more]

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