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Comprehensive Analysis of Familial Parkinsonism Genes in Rapid‐Eye‐Movement Sleep Behavior Disorder

Authors :
Christelle Charley Monaca
Alex Desautels
Yves Dauvilliers
Beatriz Abril
Elena Antelmi
Ambra Stefani
Giuseppe Plazzi
Karel Sonka
Monica Puligheddu
Brit Mollenhauer
Birgit Högl
Sandra B. Laurent
Eric Yu
Farnaz Asayesh
Luigi Ferini-Strambi
Mariarosaria Valente
Jennifer A. Ruskey
Michela Figorilli
Uladzislau Rudakou
Annette Janzen
Ziv Gan-Or
Francesco Janes
Mineke Viaene
Ronald B. Postuma
Valérie Cochen De Cock
Bradley F. Boeve
David Kemlink
Evi Holzknecht
Dan Spiegelman
Jacques Montplaisir
Anna Heidbreder
Gian Luigi Gigli
Michele T.M. Hu
Friederike Sixel-Döring
Lynne Krohn
Kheireddin Mufti
Guy A. Rouleau
Isabelle Arnulf
Claudia Trenkwalder
Wolfgang H. Oertel
Femke Dijkstra
Jean-François Gagnon
Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM)
Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
CHU Pitié-Salpêtrière [AP-HP]
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Hôpital Gui de Chauliac [CHU Montpellier]
Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)
Clinique Beau Soleil [Montpellier]
EuroMov - Digital Health in Motion (Euromov DHM)
IMT - MINES ALES (IMT - MINES ALES)
Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Montpellier (UM)
CHU Lille
Université de Lille
Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes)
Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)
Mufti, K.
Rudakou, U.
Yu, E.
Krohn, L.
Ruskey, J. A.
Asayesh, F.
Laurent, S. B.
Spiegelman, D.
Arnulf, I.
M. T. M., Hu
Montplaisir, J. Y.
Gagnon, J. -F.
Desautels, A.
Dauvilliers, Y.
Gigli, G. L.
Valente, M.
Janes, F.
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.
Cochen De Cock, V.
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.
Source :
Movement Disorders, Movement Disorders, 2021, 36 (1), pp.235-240. ⟨10.1002/mds.28318⟩, Movement disorders: video, videotape supplements
Publication Year :
2021
Publisher :
HAL CCSD, 2021.

Abstract

International audience; Background: There is only partial overlap in the genetic background of isolated rapid-eye-movement sleep behavior disorder (iRBD) and Parkinson's disease (PD).Objective: To examine the role of autosomal dominant and recessive PD or atypical parkinsonism genes in the risk of iRBD.Methods: Ten genes, comprising the recessive genes PRKN, DJ-1 (PARK7), PINK1, VPS13C, ATP13A2, FBXO7, and PLA2G6 and the dominant genes LRRK2, GCH1, and VPS35, were fully sequenced in 1039 iRBD patients and 1852 controls of European ancestry, followed by association tests.Results: We found no association between rare heterozygous variants in the tested genes and risk of iRBD. Several homozygous and compound heterozygous carriers were identified, yet there was no overrepresentation in iRBD patients versus controls.Conclusion: Our results do not support a major role for variants in these genes in the risk of iRBD. © 2020 International Parkinson and Movement Disorder Society.

Details

Language :
English
ISSN :
08853185 and 15318257
Database :
OpenAIRE
Journal :
Movement Disorders, Movement Disorders, 2021, 36 (1), pp.235-240. ⟨10.1002/mds.28318⟩, Movement disorders: video, videotape supplements
Accession number :
edsair.doi.dedup.....477997d598700bcb6755c87370c28a67