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Article Dans Une Revue Neurobiology of Aging Année : 2020

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

1 Montreal Neurological Institute and Hospital
2 McGill University = Université McGill [Montréal, Canada]
3 23andMe Inc.
4 ICM - Institut du Cerveau = Paris Brain Institute
5 Nuffield Department of Clinical Neurosciences [Oxford]
6 CHUM - Centre Hospitalier de l'Université de Montréal
7 CEAMS - Centre d'études avancées en Médecine du Sommeil
8 UQAM - Université du Québec à Montréal = University of Québec in Montréal
9 Hôpital Gui de Chauliac [CHU Montpellier]
10 PSNREC - Neuropsychiatrie : recherche épidémiologique et clinique
11 Università degli Studi di Udine - University of Udine [Italie]
12 UCL Institute of Neurology, Queen Square [London]
13 IMU - Innsbruck Medical University = Medizinische Universität Innsbruck
14 1. LF UK / 1st Faculty of Medicine - 1. lékařská fakulta, Univerzita Karlova [Praha, Česká republika] = First Faculty of Medicine, Charles University [Prague, Czech Republic]
15 Philipps Universität Marburg = Philipps University of Marburg
16 UNIBO - Alma Mater Studiorum Università di Bologna = University of Bologna
17 Institute of Neurological Sciences of Bologna IRCCS
18 University of Cagliari
19 Paracelsus-Elena-Klinik, Kassel, Germany.
20 department of neurology, clinical dementia center and DZNE, goettingen, Allemagne.
21 Georg-August-University = Georg-August-Universität Göttingen
22 Clinique Beau Soleil [Montpellier]
23 EuroMov - Euromov
24 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU Lille]
25 UKM - University Hospital Münster - Universitaetsklinikum Muenster [Germany]
26 UniSR - Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie]
27 Algemeen Ziekenhuis Sint-Dimpna
28 CHU Nîmes - Hôpital Universitaire Carémeau [Nîmes]
29 Mayo Clinic [Rochester]
30 Hôpital du Sacré-Coeur de Montréal
31 Department of Human Genetics [Montréal]
Karl Heilbron
  • Fonction : Auteur
Paul Cannon
  • Fonction : Auteur
Michela Figorilli
Monica Puligheddu
Femke Dijkstra
Mineke Viaene

Résumé

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.

Dates et versions

hal-03574835 , version 1 (15-02-2022)

Identifiants

Citer

Uladzislau Rudakou, Naomi Futhey, Lynne Krohn, Jennifer Ruskey, Karl Heilbron, et al.. SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder. Neurobiology of Aging, 2020, 93, pp.142.e5-142.e7. ⟨10.1016/j.neurobiolaging.2020.04.005⟩. ⟨hal-03574835⟩
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