title: GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.
abstract: Rapid eye movement sleep behavior disorder and GBA mutations are both associated with Parkinson's disease. The GBA gene was sequenced in idiopathic rapid eye movement sleep behavior disorder patients (n = 265), and compared to controls (n = 2240). Rapid eye movement sleep behavior disorder questionnaire was performed in an independent Parkinson's disease cohort (n = 120). GBA mutations carriers had an OR of 6.24 (10.2% in patients vs. 1.8% in controls, P < 0.0001) for rapid eye movement sleep behavior disorder, and among Parkinson's disease patients, the OR for mutation carriers to have probable rapid eye movement sleep behavior disorder was 3.13 (P = 0.039). These results demonstrate that rapid eye movement sleep behavior disorder is associated with GBA mutations, and that combining genetic and prodromal data may assist in identifying individuals susceptible to Parkinson's disease.
authors.affiliation: Montreal Neurological Institute, McGill University Montréal, Quebec, Canada ; Department of Human Genetics, McGill University Montréal, Quebec, Canada.
authors.forename: Ziv
authors.initials: Z
authors.lastname: Gan-Or
authors.affiliation: Department of Neurology, Tel-Aviv Sourasky Medical Center Tel-Aviv, Israel.
authors.forename: Anat
authors.initials: A
authors.lastname: Mirelman
authors.affiliation: Department of Neurology, Montreal General Hospital Montréal, Quebec, Canada.
authors.forename: Ronald B
authors.initials: RB
authors.lastname: Postuma
authors.affiliation: Sleep Disorders Unit, Pitié Salpêtrière Hospital, Brain and Spine Institute and Sorbonne Universities, UPMC Paris 6 University Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Arnulf
authors.affiliation: The Genetic Institute, Tel-Aviv Sourasky Medical Center Tel-Aviv, Israel.
authors.forename: Anat
authors.initials: A
authors.lastname: Bar-Shira
authors.affiliation: Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology, Hôpital-Gui-de Chauliac, CHU Montpellier Montpellier, France.
authors.forename: Yves
authors.initials: Y
authors.lastname: Dauvilliers
authors.affiliation: Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal Montréal, Quebec, Canada ; Department of Neurosciences, Université de Montréal Montréal, Canada.
authors.forename: Alex
authors.initials: A
authors.lastname: Desautels
authors.affiliation: Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal Montréal, Quebec, Canada ; Département de psychologie, Université du Québec à Montréal Montréal, Quebec, Canada.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Gagnon
authors.affiliation: Montreal Neurological Institute, McGill University Montréal, Quebec, Canada ; Department of Human Genetics, McGill University Montréal, Quebec, Canada.
authors.forename: Claire S
authors.initials: CS
authors.lastname: Leblond
authors.affiliation: Sleep Disorders Clinic, Department of Neurology, Innsbruck Medical University Innsbruck, Austria.
authors.forename: Birgit
authors.initials: B
authors.lastname: Frauscher
authors.affiliation: Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University New York, New York.
authors.forename: Roy N
authors.initials: RN
authors.lastname: Alcalay
authors.affiliation: Department of Neurology, Icahn School of Medicine at Mount Sinai New York, New York ; Department of Neurology, Albert Einstein College of Medicine Bronx New York, New York.
authors.forename: Rachel
authors.initials: R
authors.lastname: Saunders-Pullman
authors.affiliation: Department of Neurology, Beth Israel Medical Center New York, New York.
authors.forename: Susan B
authors.initials: SB
authors.lastname: Bressman
authors.affiliation: Columbia Presbyterian Medical Center, Columbia University New York, New York.
authors.forename: Karen
authors.initials: K
authors.lastname: Marder
authors.affiliation: Department of clinical neurophysiology and sleep center, University Lille north of France, CHU Lille Lille, France.
authors.forename: Christelle
authors.initials: C
authors.lastname: Monaca
authors.affiliation: Sleep Disorders Clinic, Department of Neurology, Innsbruck Medical University Innsbruck, Austria.
authors.forename: Birgit
authors.initials: B
authors.lastname: Högl
authors.affiliation: The Genetic Institute, Tel-Aviv Sourasky Medical Center Tel-Aviv, Israel ; The Sackler Faculty of Medicine, Tel-Aviv University Tel-Aviv, Israel.
authors.forename: Avi
authors.initials: A
authors.lastname: Orr-Urtreger
authors.affiliation: Montreal Neurological Institute, McGill University Montréal, Quebec, Canada ; Department of Human Genetics, McGill University Montréal, Quebec, Canada ; Department of Neurology and Neurosurgery, McGill University Montréal, Quebec, Canada.
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Dion
authors.affiliation: Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal Montréal, Quebec, Canada ; Department of Psychiatry, Université de Montréal Montréal, Quebec, Canada.
authors.forename: Jacques Y
authors.initials: JY
authors.lastname: Montplaisir
authors.affiliation: Department of Neurology, Tel-Aviv Sourasky Medical Center Tel-Aviv, Israel ; The Sackler Faculty of Medicine, Tel-Aviv University Tel-Aviv, Israel.
authors.forename: Nir
authors.initials: N
authors.lastname: Giladi
authors.affiliation: Montreal Neurological Institute, McGill University Montréal, Quebec, Canada ; Department of Human Genetics, McGill University Montréal, Quebec, Canada ; Department of Neurology and Neurosurgery, McGill University Montréal, Quebec, Canada.
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau