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

Authors :
Marco Toffoli
Uladzislau Rudakou
Anna Heidbreder
Michele T.M. Hu
Isabelle Arnulf
Lynne Krohn
Jean-François Gagnon
Femke Dijkstra
Yves Dauvilliers
Beatriz Abril
Elena Antelmi
Brit Mollenhauer
Annette Janzen
Naomi C. Futhey
Ambra Stefani
Jacques Montplaisir
W. H. Oertel
David Kemlink
Evi Holzknecht
Armaghan Alam
Paul Cannon
Luigi Ferini-Strambi
Guy A. Rouleau
Claudia Trenkwalder
Mineke Viaene
Karel Sonka
Birgit Högl
Christelle Charley Monaca
Ronald B. Postuma
Monica Puligheddu
Alex Desautels
Mariarosaria Valente
Bradley F. Boeve
Karl Heilbron
Valérie Cochen De Cock
Michela Figorilli
Friederike Sixel-Döring
Ziv Gan-Or
Gian Luigi Gigli
Jennifer A. Ruskey
Giuseppe Plazzi
Rudakou, U.
Futhey, N. C.
Krohn, L.
Ruskey, J. A.
Heilbron, K.
Cannon, P.
Alam, A.
Arnulf, I.
M. T. M., Hu
Montplaisir, J. Y.
Gagnon, J. -F.
Desautels, A.
Dauvilliers, Y.
Toffoli, M.
Gigli, G. L.
Valente, M.
Hogl, B.
Stefani, A.
Holzknecht, E.
Sonka, K.
Kemlink, D.
Oertel, W.
Janzen, A.
Plazzi, G.
Antelmi, E.
Figorilli, M.
Puligheddu, M.
Mollenhauer, B.
Trenkwalder, C.
Sixel-Doring, F.
De Cock, V. C.
Monaca, C. C.
Heidbreder, A.
Ferini-Strambi, L.
Dijkstra, F.
Viaene, M.
Abril, B.
Boeve, B. F.
Postuma, R. B.
Rouleau, G. A.
Gan-Or, Z.
Salvy-Córdoba, Nathalie
Montreal Neurological Institute and Hospital
McGill University = Université McGill [Montréal, Canada]
23andMe Inc.
Institut du Cerveau = Paris Brain Institute (ICM)
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP]
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
Nuffield Department of Clinical Neurosciences [Oxford]
University of Oxford
Centre Hospitalier de l'Université de Montréal (CHUM)
Université de Montréal (UdeM)
Centre d'études avancées en Médecine du Sommeil (CEAMS)
Université de Montréal (UdeM)-Hôpital du Sacré-Coeur de Montréal
Université du Québec à Montréal = University of Québec in Montréal (UQAM)
Hôpital Gui de Chauliac [Montpellier]
Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC)
Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)
Università degli Studi di Udine - University of Udine [Italie]
UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London
University of Udine and University Hospital of Udine
Innsbruck Medical University = Medizinische Universität Innsbruck (IMU)
First Faculty of Medicine Charles University [Prague]
Philipps Universität Marburg = Philipps University of Marburg
Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO)
Institute of Neurological Sciences of Bologna IRCCS
University of Cagliari
Paracelsus-Elena-Klinik, Kassel, Germany.
department of neurology, clinical dementia center and DZNE, goettingen, Allemagne.
Georg-August-University = Georg-August-Universität Göttingen
Department of Psychiatry and Psychotherapy, University Medical Center Goettingen (UMG), Göttingen
Clinique Beau Soleil [Montpellier]
Euromov (EuroMov)
Université de Montpellier (UM)
CHU Lille
University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM)
Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR)
Algemeen Ziekenhuis Sint-Dimpna
Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes)
Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)
Mayo Clinic [Rochester]
Hôpital du Sacré-Coeur de Montréal
Department of Human Genetics [Montréal]
Source :
Neurobiology of Aging, Neurobiology of Aging, 2020, 93, pp.142.e5-142.e7. ⟨10.1016/j.neurobiolaging.2020.04.005⟩
Publication Year :
2020
Publisher :
Elsevier BV, 2020.

Abstract

International audience; 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.

Details

ISSN :
01974580
Volume :
93
Database :
OpenAIRE
Journal :
Neurobiology of Aging
Accession number :
edsair.doi.dedup.....497fa60de2d26c431051e9e9957327f8
Full Text :
https://doi.org/10.1016/j.neurobiolaging.2020.04.005