Article dans une revue

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

Uladzislau Rudakou ^{1, 2} Naomi Futhey ¹ Lynne Krohn ¹ Jennifer Ruskey ¹ Karl Heilbron ³ Paul Cannon ³ Armaghan Alam ¹ Isabelle Arnulf ⁴ Michele Hu ⁵ Jacques Montplaisir ^{6, 7} Jean-François Gagnon ^{7, 8} Alex Desautels ^{7, 6} Yves Dauvilliers ^{9, 10} Marco Toffoli ^{11, 12} Gian Luigi Gigli ¹¹ Mariarosaria Valente ¹³ Birgit Högl ¹⁴ Ambra Stefani ¹⁴ Evi Holzknecht ¹⁴ Karel Sonka ¹⁵ David Kemlink ¹⁵ Wolfang Oertel ¹⁶ Annette Janzen ¹⁶ Giuseppe Plazzi ^{17, 18} Elena Antelmi ^{17, 18} Michela Figorilli ¹⁹ Monica Puligheddu ¹⁹ Brit Mollenhauer ^{20, 21} Claudia Trenkwalder ^{20, 22} Friederike Sixel-Döring ^{16, 20} Valérie Cochen de Cock ^{23, 24} Christelle Charley Monaca ²⁵ Anna Heidbreder ²⁶ Luigi Ferini-Strambi ²⁷ Femke Dijkstra ²⁸ Mineke Viaene ²⁸ Beatriz Abril ²⁹ Bradley Boeve ³⁰ Ronald Postuma ^{1, 31} Guy Rouleau ^{32, 1} Ziv Gan-Or ^{32, 1}

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 [Montpellier]

10 PSNREC - Neuropsychiatrie : recherche épidémiologique et clinique

11 Università degli Studi di Udine - University of Udine [Italie]

12 UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London

13 University of Udine and University Hospital of Udine

14 IMU - Innsbruck Medical University [Austria]

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]

Abstract : 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.

Keywords : Association study REM sleep behavior disorder Sphingomyelin phosphodiesterase 1

Type de document :

Article dans une revue

Domaine :

Sciences cognitives / Neurosciences

Sciences du Vivant [q-bio] / Génétique / Génétique humaine

Liste complète des métadonnées

https://hal.umontpellier.fr/hal-03574835
Contributeur : Nathalie Salvy-Córdoba Connectez-vous pour contacter le contributeur
Soumis le : mardi 15 février 2022 - 12:31:27
Dernière modification le : samedi 3 septembre 2022 - 03:33:05