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

Uladzislau Rudakou; Naomi Futhey; Lynne Krohn; Jennifer Ruskey; Karl Heilbron; Paul Cannon; Armaghan Alam; Isabelle Arnulf; Michele Hu; Jacques 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 Boeve; Ronald Postuma; Guy Rouleau; Ziv Gan-Or

doi:10.1016/j.neurobiolaging.2020.04.005

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

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

Uladzislau Rudakou, Naomi Futhey, Lynne Krohn, Jennifer Ruskey, Karl Heilbron, Paul Cannon, Armaghan Alam, Isabelle Arnulf, Michele Hu, Jacques Montplaisir, …

Neurobiology of Aging, Vol.93, pp.142.e5-142.e7

09/2020

DOI: https://doi.org/10.1016/j.neurobiolaging.2020.04.005

PMID: 32409254

Résumé

Sphingomyelin phosphodiesterase 1

REM sleep behavior disorder

Association study

Female

Genetic Association Studies

Genetic Variation

High-Throughput Nucleotide Sequencing

Humans

Male

Negative Results

Sleep Wake Disorders

Sleep, REM

Sphingomyelin Phosphodiesterase

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.

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Titre: SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder
Créateurs - sans rôle: Uladzislau Rudakou - McGill University
Naomi Futhey - Montreal Neurological Institute and Hospital
Lynne Krohn - McGill University
Jennifer Ruskey - Montreal Neurological Institute and Hospital
Karl Heilbron - 23andMe
Paul Cannon - 23andMe
Armaghan Alam - McGill University
Isabelle Arnulf - Institut du Cerveau
Michele Hu - Nuffield Department of Clinical Neurosciences [Oxford]
Jacques Montplaisir - Hôpital du Sacré-Cœur de Montréal
Jean-François Gagnon - Université du Québec à Montréal
Alex Desautels - Hôpital du Sacré-Cœur de Montréal
Yves Dauvilliers - Université de Montpellier
Marco Toffoli - University of Udine
Gian Luigi Gigli - University of Udine
Mariarosaria Valente - University of Udine
Birgit Högl - Universität Innsbruck
Ambra Stefani - Innsbruck Medical University
Evi Holzknecht - Innsbruck Medical University
Karel Sonka - Charles University
David Kemlink - Charles University
Wolfang Oertel - Philipps University of Marburg
Annette Janzen - Philipps University of Marburg
Giuseppe Plazzi - University of Bologna
Elena Antelmi - Institute of Neurological Sciences
Michela Figorilli - University of Cagliari
Monica Puligheddu - University of Cagliari
Brit Mollenhauer - Paracelsus Elena Klinik Kassel
Claudia Trenkwalder - Paracelsus Elena Klinik Kassel
Friederike Sixel-Döring - Paracelsus Elena Klinik Kassel
Valérie Cochen de Cock - Clinique du Millénaire
Christelle Charley Monaca - Centre Hospitalier Universitaire de Lille
Anna Heidbreder - University Hospital Münster
Luigi Ferini-Strambi - Vita-Salute San Raffaele University
Femke Dijkstra - Algemeen Ziekenhuis Sint-Dimpna
Mineke Viaene - Algemeen Ziekenhuis Sint-Dimpna
Beatriz Abril - Centre Hospitalier Universitaire de Nîmes
Bradley Boeve - Mayo Clinic
Ronald Postuma - Hôpital du Sacré-Cœur de Montréal
Guy Rouleau - Montreal Neurological Institute and Hospital
Ziv Gan-Or - Montreal Neurological Institute and Hospital
Détails de publication: Neurobiology of Aging, Vol.93, pp.142.e5-142.e7
Identifiants: 99152997809311
Unité académique: EuroMov Digital Health in Motion - EuroMov DHM
Langue: English
Type de ressource: Journal article
Champs locaux: hal-03574835