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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 University of Udine and University Hospital of Udine
14 IMU - Innsbruck Medical University = Medizinische Universität Innsbruck
15 First Faculty of Medicine Charles University [Prague]
16 Philipps Universität Marburg = Philipps University of Marburg
17 UNIBO - Alma Mater Studiorum Università di Bologna [Bologna]
18 Institute of Neurological Sciences of Bologna IRCCS
19 University of Cagliari
20 Paracelsus-Elena-Klinik, Kassel, Germany.
21 department of neurology, clinical dementia center and DZNE, goettingen, Allemagne.
22 Department of Psychiatry and Psychotherapy, University Medical Center Goettingen (UMG), Göttingen
23 Clinique Beau Soleil [Montpellier]
24 EuroMov - Euromov
25 CHU Lille
26 UKM - University Hospital Münster - Universitaetsklinikum Muenster [Germany]
27 UniSR - Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie]
28 Algemeen Ziekenhuis Sint-Dimpna
29 CHU Nîmes - Hôpital Universitaire Carémeau [Nîmes]
30 Mayo Clinic [Rochester]
31 Hôpital du Sacré-Coeur de Montréal
32 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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