title: 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.
authors: Department of Clinical Neuroscience, University College London, UK. c.proukakis@ucl.ac.uk
authors: Christos
authors: C
authors: Proukakis
authors: Christopher G
authors: CG
authors: Dudzik
authors: Timothy
authors: T
authors: Brier
authors: Donna S
authors: DS
authors: MacKay
authors: J Mark
authors: JM
authors: Cooper
authors: Glenn L
authors: GL
authors: Millhauser
authors: Henry
authors: H
authors: Houlden
authors: Anthony H
authors: AH
authors: Schapira
mesh_terms: D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis* / Q000235:genetics*; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: D051844:alpha-Synuclein