Article
Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.
Annals of neurology - 1 Apr 2020
Krohn Lynne, Wu Richard Y J, Heilbron Karl, Ruskey Jennifer A, Laurent Sandra B, Blauwendraat Cornelis, Alam Armaghan, Arnulf Isabelle, Hu Michele T M, Dauvilliers Yves, Högl Birgit, Toft Mathias, Bjørnarå Kari Anne, Stefani Ambra, Holzknecht Evi, Monaca Christelle Charley, Abril Beatriz, Plazzi Giuseppe, Antelmi Elena, Ferini-Strambi Luigi, Young Peter, Heidbreder Anna, Cochen De Cock Valérie, Mollenhauer Brit, Sixel-Döring Friederike, Trenkwalder Claudia, Sonka Karel, Kemlink David, Figorilli Michela, Puligheddu Monica, Dijkstra Femke, Viaene Mineke, Oertel Wolfang, Toffoli Marco, Gigli Gian Luigi, Valente Mariarosaria, Gagnon Jean-François, Nalls Mike A, Singleton Andrew B, Desautels Alex, Montplaisir Jacques Y, Cannon Paul, Ross Owen A, Boeve Bradley F, Dupré Nicolas, Fon Edward A, Postuma Ronald B, Pihlstrøm Lasse, Rouleau Guy A, Gan-Or Ziv
Abstract excerpt
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,...
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