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

Kheireddin Mufti; Uladzislau Rudakou; Eric Yu; Lynne Krohn; Jennifer Ruskey; Farnaz Asayesh; Sandra Laurent; Dan Spiegelman; Isabelle Arnulf; Michele Hu; Jacques Montplaisir; Jean-François Gagnon; Alex Desautels; Yves Dauvilliers; Gian Luigi Gigli; Mariarosaria Valente; Francesco Janes; Birgit Högl; Ambra Stefani; Evi Holzknecht; Karel Šonka; David Kemlink; Wolfgang Oertel; Annette Janzen; Giuseppe Plazzi; Elena Antelmi; Michela Figorilli; Monica Puligheddu; Brit Mollenhauer; Claudia Trenkwalder; Friederike Sixel-Döring; Valérie Cochen de Cock; Christelle Charley Monaca; Anna Heidbreder; Luigi Ferini-Strambi; Femke Dijkstra; Mineke Viaene; Beatriz Abril; Bradley Boeve; Ronald Postuma; Guy Rouleau; Ziv Gan-Or; Michele T.M. Hu; Jean‐françois Gagnon; Friederike Sixel‐döring; Luigi Ferini‐strambi; Ziv Gan‐or

doi:10.1002/mds.28318

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

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

Kheireddin Mufti, Uladzislau Rudakou, Eric Yu, Lynne Krohn, Jennifer Ruskey, Farnaz Asayesh, Sandra Laurent, Dan Spiegelman, Isabelle Arnulf, Michele Hu, …

Movement Disorders, Vol.36(1), pp.235-240

01/2021

DOI: https://doi.org/10.1002/mds.28318

PMID: 33001463

Résumé

Parkinson's disease

genetic analysis

REM sleep behavior disorder

Heterozygote

Humans

Parkinson Disease

Parkinsonian Disorders

REM Sleep Behavior Disorder

Sleep

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.

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Titre: Comprehensive Analysis of Familial Parkinsonism Genes in Rapid‐Eye‐Movement Sleep Behavior Disorder
Créateurs - sans rôle: Kheireddin Mufti - McGill University
Uladzislau Rudakou - Montreal Neurological Institute and Hospital
Eric Yu - McGill University
Lynne Krohn - McGill University
Jennifer Ruskey - Montreal Neurological Institute and Hospital
Farnaz Asayesh - McGill University
Sandra Laurent - McGill University
Dan Spiegelman - McGill University
Isabelle Arnulf - Institut du Cerveau
Michele Hu
Jacques Montplaisir - Hôpital du Sacré-Cœur de Montréal
Jean-François Gagnon
Alex Desautels - Hôpital du Sacré-Cœur de Montréal
Yves Dauvilliers - Université de Montpellier
Gian Luigi Gigli - University of Udine
Mariarosaria Valente - University of Udine
Francesco Janes - University of Udine
Birgit Högl - Innsbruck Medical University
Ambra Stefani - Universität Innsbruck
Evi Holzknecht - Innsbruck Medical University
Karel Šonka - General University Hospital in Prague
David Kemlink - Charles University
Wolfgang Oertel - Philipps University of Marburg
Annette Janzen - Philipps University of Marburg
Giuseppe Plazzi - Institute of Neurological Sciences
Elena Antelmi - University of Bologna
Michela Figorilli - University of Cagliari
Monica Puligheddu - University of Cagliari
Brit Mollenhauer - Paracelsus Elena Klinik Kassel
Claudia Trenkwalder - Paracelsus Elena Klinik Kassel
Friederike Sixel-Döring - Paracelsus Elena Klinik Kassel
Valérie Cochen de Cock - EuroMov Digital Health in Motion
Christelle Charley Monaca - Centre Hospitalier Universitaire de Lille
Anna Heidbreder - University of Münster
Luigi Ferini-Strambi - Vita-Salute San Raffaele University
Femke Dijkstra - California Center for Sleep Disorders
Mineke Viaene - California Center for Sleep Disorders
Beatriz Abril - Université de Nîmes
Bradley Boeve - Mayo Clinic
Ronald Postuma - McGill University
Guy Rouleau - Montreal Neurological Institute and Hospital
Ziv Gan-Or - McGill University
Michele T.M. Hu
Jean‐françois Gagnon - Canadian Sleep & Circadian Network
Friederike Sixel‐döring - Paracelsus Elena Klinik Kassel
Luigi Ferini‐strambi - Vita-Salute San Raffaele University
Ziv Gan‐or - McGill University
Détails de publication: Movement Disorders, Vol.36(1), pp.235-240
Identifiants: 99153638609311
Unité académique: EuroMov Digital Health in Motion - EuroMov DHM
Langue: English
Type de ressource: Journal article
Champs locaux: hal-03653760