A novel α-synuclein missense mutation in Parkinson disease

a-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.Methods and results.Standard protocol approvals, registrations, and patient consents.Patients had given written informed consent for use of their brains in research.The study was approved by the local ethics committee.