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Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease

Movement Disorders · 2013 · Vol. 28(6) · pp. 811–813

Silke Appel‐Cresswell✉(University of British Columbia)Carles Vilariño‐Güell(University of British Columbia)Mary Joy Encarnacion(University of British Columbia)Holly E. Sherman(University of British Columbia)Irene Yu(University of British Columbia)Brinda Shah(University of British Columbia)David Weir(University of British Columbia)Christina Thompson(University of British Columbia)Chelsea Szu‐Tu(University of British Columbia)Joanne Trinh(University of British Columbia)Jan Aasly(St Olav's University Hospital)Alex Rajput(Saskatchewan Health Authority)Ali H. Rajput(University of Saskatchewan)A. Jon Stoessl(Pacific Centre for Reproductive Medicine)Matthew J. Farrer(University of British Columbia)

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Abstract

The substitution's evolutionary conservation and protein modeling provide additional support for pathogenicity as the amino acid perturbs the same amphipathic alpha helical structure as the previously described pathogenic mutations.

Parkinson's Disease Mechanisms and Treatments Neurological disorders and treatments Neurological diseases and metabolismMissense mutationParkinsonismAlpha-synucleinGeneticsMutationExonBiologyParkinson's diseaseDementiaDisease