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

Kheireddin Mufti^{1

2}, Uladzislau Rudakou^{1

2}, Eric Yu^{1

2}, Lynne Krohn^{1

2}, Jennifer A Ruskey^{2

3}, Farnaz Asayesh^{2

3}, Sandra B Laurent^{2

3}, Dan Spiegelman^{2

3}, Isabelle Arnulf⁴, Michele T M Hu^{5

6}, Jacques Y Montplaisir^{7

8}, Jean-François Gagnon^{7

9}, Alex Desautels^{7

10}, Yves Dauvilliers¹¹, Gian Luigi Gigli^{12

13}, Mariarosaria Valente^{12

14}, Francesco Janes¹², Birgit Högl¹⁵, Ambra Stefani¹⁵, Evi Holzknecht¹⁵, Karel Šonka¹⁶, David Kemlink¹⁶, Wolfgang Oertel¹⁷, Annette Janzen¹⁷, Giuseppe Plazzi^{18

19}, Elena Antelmi^{18

20}, Michela Figorilli²¹, Monica Puligheddu²¹, Brit Mollenhauer^{22

23}, Claudia Trenkwalder^{22

23}, Friederike Sixel-Döring^{17

22}, Valérie Cochen De Cock^{24

25}, Christelle Charley Monaca²⁶, Anna Heidbreder²⁷, Luigi Ferini-Strambi²⁸, Femke Dijkstra^{29

30

31}, Mineke Viaene^{29

30}, Beatriz Abril³², Bradley F Boeve³³, Ronald B Postuma^{2

3

7}, Guy A Rouleau^{1

2

3}, Ziv Gan-Or^{1

2

3}

Affiliations

¹ Department of Human Genetics, McGill University, Montréal, Québec, Canada.
² Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
³ Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
⁴ Sleep Disorders Unit, Pitié Salpêtrière Hospital, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière and Sorbonne University, Paris, France.
⁵ Oxford Parkinson's Disease Centre (OPDC), University of Oxford, Oxford, United Kingdom.
⁶ Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
⁷ Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Québec, Canada.
⁸ Department of Psychiatry, Université de Montréal, Montréal, Québec, Canada.
⁹ Department of Psychology, Université du Québec à Montréal, Montréal, Québec, Canada.
¹⁰ Department of Neurosciences, Université de Montréal, Montréal, Québec, Canada.
¹¹ National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Montpellier, France.
¹² Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
¹³ Department of Medicine, University of Udine, Udine, Italy.
¹⁴ Department of Medicine (DAME), University of Udine, Udine, Italy.
¹⁵ Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
¹⁶ Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
¹⁷ Department of Neurology, Philipps University, Marburg, Germany.
¹⁸ Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
¹⁹ IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.
²⁰ Neurology Unit, Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
²¹ Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy.
²² Paracelsus-Elena-Klinik, Kassel, Germany.
²³ Department of Neurology, University Medical Centre Göttingen, Göttingen, Germany.
²⁴ Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France.
²⁵ EuroMov, University of Montpellier, Montpellier, France.
²⁶ Department of Clinical Neurophysiology and Sleep Center, University Lille North of France, CHU Lille, Lille, France.
²⁷ Department of Sleep Medicine and Neuromuscular Disorders, University of Müenster, Müenster, Germany.
²⁸ Department of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy.
²⁹ Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.
³⁰ Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium.
³¹ Department of Neurology, University Hospital Antwerp, Edegem, Belgium.
³² Sleep Disorder Unit, Carémeau Hospital, University Hospital of Nîmes, Nîmes, France.
³³ Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

PMID: 33001463
DOI: 10.1002/mds.28318

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

Kheireddin Mufti et al. Mov Disord. 2021 Jan.

. 2021 Jan;36(1):235-240.

doi: 10.1002/mds.28318. Epub 2020 Oct 1.

Authors

Affiliations

¹ Department of Human Genetics, McGill University, Montréal, Québec, Canada.
² Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
³ Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
⁴ Sleep Disorders Unit, Pitié Salpêtrière Hospital, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière and Sorbonne University, Paris, France.
⁵ Oxford Parkinson's Disease Centre (OPDC), University of Oxford, Oxford, United Kingdom.
⁶ Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
⁷ Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Québec, Canada.
⁸ Department of Psychiatry, Université de Montréal, Montréal, Québec, Canada.
⁹ Department of Psychology, Université du Québec à Montréal, Montréal, Québec, Canada.
¹⁰ Department of Neurosciences, Université de Montréal, Montréal, Québec, Canada.
¹¹ National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Montpellier, France.
¹² Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
¹³ Department of Medicine, University of Udine, Udine, Italy.
¹⁴ Department of Medicine (DAME), University of Udine, Udine, Italy.
¹⁵ Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
¹⁶ Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
¹⁷ Department of Neurology, Philipps University, Marburg, Germany.
¹⁸ Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
¹⁹ IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.
²⁰ Neurology Unit, Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
²¹ Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy.
²² Paracelsus-Elena-Klinik, Kassel, Germany.
²³ Department of Neurology, University Medical Centre Göttingen, Göttingen, Germany.
²⁴ Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France.
²⁵ EuroMov, University of Montpellier, Montpellier, France.
²⁶ Department of Clinical Neurophysiology and Sleep Center, University Lille North of France, CHU Lille, Lille, France.
²⁷ Department of Sleep Medicine and Neuromuscular Disorders, University of Müenster, Müenster, Germany.
²⁸ Department of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy.
²⁹ Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.
³⁰ Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium.
³¹ Department of Neurology, University Hospital Antwerp, Edegem, Belgium.
³² Sleep Disorder Unit, Carémeau Hospital, University Hospital of Nîmes, Nîmes, France.
³³ Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

PMID: 33001463
DOI: 10.1002/mds.28318

Abstract

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.

Keywords: REM sleep behavior disorder; genetic analysis; Parkinson's disease.

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References

1. Högl B, Stefani A, Videnovic A. Idiopathic REM sleep behaviour disorder and neurodegeneration-An update. Nat Rev Neurol 2018;14(1):40.
1. Postuma RB, Iranzo A, Hu M, et al. Risk and predictors of dementia and parkinsonism in idiopathic REM sleep behaviour disorder: a multicentre study. Brain 2019;142(3):744-759.
1. Nalls MA, Blauwendraat C, Vallerga CL, et al. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet Neurology 2019;18(12):1091-1102.
1. Gan-Or Z, Alcalay RN, Rouleau GA, Postuma RB. Sleep disorders and Parkinson disease; lessons from genetics. Sleep Med Rev 2018;41:101-112.
1. Chenbhanich J, Sringean J, Bhidayasiri R. Beyond the classic Segawa disease, GCH1-associated neurodegenerative parkinsonism: practical considerations for physicians. J Mov Disord 2017;10(2):102.

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

Affiliations

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

Authors

Affiliations

Abstract

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous