G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome

By S. Lesage, M. Anheim, F. Letournel, Luc Bousset, A. Honoré, Nelly Rozas, Laura Pieri, K. Madiona, A. Dürr, R. Melki and 2 more. Annals of Neurology, 2013

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To date, 3 rare missense mutations in the SNCA (α‐synuclein) gene and the more frequent duplications or triplications of the wild‐type gene are known to cause a broad array of clinical and pathological symptoms in familial Parkinson disease (PD). Here, we describe a French family with a parkinsonian–pyramidal syndrome harboring a novel heterozygous SNCA mutation.

Subfields: Cellular and Molecular Neuroscience, Neurology

View Paper: https://www.semanticscholar.org/paper/c1cdfeb71a8c1da9e9c7058aa5841b2687b5b535