Lynne Krohn, Richard Y J Wu, Karl Heilbron, Jennifer A Ruskey, Sandra B Laurent, Cornelis Blauwendraat, Armaghan Alam, Isabelle Arnulf, Michele T M Hu, Yves Dauvilliers, Birgit Högl, Mathias Toft, Kari Anne Bjørnarå, Ambra Stefani, Evi Holzknecht, Christelle Charley Monaca, Beatriz Abril, Giuseppe Plazzi, Elena Antelmi, Luigi Ferini-Strambi, Peter Young, Anna Heidbreder, Valérie Cochen De Cock, Brit Mollenhauer, Friederike Sixel-Döring, Claudia Trenkwalder, Karel Sonka, David Kemlink, Michela Figorilli, Monica Puligheddu, Femke Dijkstra, Mineke Viaene, Wolfang Oertel, Marco Toffoli, Gian Luigi Gigli, Mariarosaria Valente, Jean-François Gagnon, Mike A Nalls, Andrew B Singleton, Alex Desautels, Jacques Y Montplaisir, Paul Cannon, Owen A Ross, Bradley F Boeve, Nicolas Dupré, Edward A Fon, Ronald B Postuma, Lasse Pihlstrøm, Guy A Rouleau, Ziv Gan-Or
OBJECTIVE: Rapid eye movement sleep behavior disorder (RBD) is a prodromal synucleinopathy, as >80% will eventually convert to overt synucleinopathy. We performed an in-depth analysis of the SNCA locus to identify RBD-specific risk variants. METHODS: Full sequencing and genotyping of SNCA was performed in isolated/idiopathic RBD (iRBD, n = 1,076), Parkinson disease (PD, n = 1,013), dementia with Lewy bodies (DLB, n = 415), and control subjects (n = 6,155). The iRBD cases were diagnosed with RBD prior to neurodegeneration, although some have since converted...
April 2020: Annals of Neurology