A Novel SNCA A30G Mutation Causes Familial Parkinson's Disease.
Hui LiuChristos KorosTimo StrohäkerClaudia SchulteMaria BoziStefanos VarvaresosAlain Ibáñez de OpakuaAthina Maria SimitsiAnastasia BougeaKonstantinos VoumvourakisMatina ManiatiSokratis G PapageorgiouAnn-Kathrin HauserStefan BeckerMarkus ZweckstetterLeonidas StefanisThomas GasserPublished in: Movement disorders : official journal of the Movement Disorder Society (2021)
Based on the identification of A30G co-segregating with the disease in three families, the absence of the mutation in controls and population databases, and the observed functional effects, we propose SNCA A30G as a novel causative mutation for familial PD. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.