Article
SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder.
Neurobiology of aging - 1 Sept 2020
Rudakou Uladzislau, Futhey Naomi C, Krohn Lynne, Ruskey Jennifer A, Heilbron Karl, Cannon Paul, Alam Armaghan, Arnulf Isabelle, Hu Michele T M, Montplaisir Jacques Y, Gagnon Jean-François, Desautels Alex, Dauvilliers Yves, Toffoli Marco, Gigli Gian Luigi, Valente Mariarosaria, Högl Birgit, Stefani Ambra, Holzknecht Evi, Sonka Karel, Kemlink David, Oertel Wolfang, Janzen Annette, Plazzi Giuseppe, Antelmi Elena, Figorilli Michela, Puligheddu Monica, Mollenhauer Brit, Trenkwalder Claudia, Sixel-Döring Friederike, De Cock Valérie Cochen, Monaca Christelle Charley, Heidbreder Anna, Ferini-Strambi Luigi, Dijkstra Femke, Viaene Mineke, Abril Beatriz, Boeve Bradley F, Postuma Ronald B, Rouleau Guy A, Gan-Or Ziv
Abstract excerpt
Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson's disease and dementia with Lewy bodies. In the current study, we aimed to evaluate the role of SMPD1 variants in isolated rapid eye movement sleep behavior disorder (iRBD). SMPD1 and its untranslated regions were sequenced using targeted next-generation sequencing in 959 iRBD patients and 1287 controls...
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