SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder.

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 from European descent. Our study reports no statistically significant association of SMPD1 variants and iRBD. It is hence unlikely that SMPD1 plays a major role in iRBD. Copyright © 2020 Elsevier Inc. All rights reserved.

Citation

Uladzislau Rudakou, Naomi C Futhey, Lynne Krohn, Jennifer A Ruskey, Karl Heilbron, Paul Cannon, 23andMe Research Team, Armaghan Alam, Isabelle Arnulf, Michele T M Hu, Jacques Y Montplaisir, Jean-François Gagnon, Alex Desautels, Yves Dauvilliers, Marco Toffoli, Gian Luigi Gigli, Mariarosaria Valente, Birgit Högl, Ambra Stefani, Evi Holzknecht, Karel Sonka, David Kemlink, Wolfang Oertel, Annette Janzen, Giuseppe Plazzi, Elena Antelmi, Michela Figorilli, Monica Puligheddu, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel-Döring, Valérie Cochen De Cock, Christelle Charley Monaca, Anna Heidbreder, Luigi Ferini-Strambi, Femke Dijkstra, Mineke Viaene, Beatriz Abril, Bradley F Boeve, Ronald B Postuma, Guy A Rouleau, Ziv Gan-Or. SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder. Neurobiology of aging. 2020 Sep;93:142.e5-142.e7

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PMID: 32409254

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