Fine‐mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies,Annals of Neurology

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Fine‐mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies
Annals of Neurology ( IF 8.1 ) Pub Date : 2020-04-01 , DOI: 10.1002/ana.25687
Lynne Krohn _{1,

2} , Richard Y J Wu _{1,

3} , Karl Heilbron ₄ , Jennifer A Ruskey _{2,

5} , Sandra B Laurent _{2,

5} , Cornelis Blauwendraat ₆ , Armaghan Alam _{1,

2} , Isabelle Arnulf ₇ , Michele T M Hu _{8,

9} , Yves Dauvilliers ₁₀ , Birgit Högl ₁₁ , Mathias Toft _{12,

13} , Kari Anne Bjørnarå ₁₂ , Ambra Stefani ₁₁ , Evi Holzknecht ₁₁ , Christelle Charley Monaca ₁₄ , Beatriz Abril ₁₅ , Giuseppe Plazzi _{16,

17} , Elena Antelmi _{16,

17} , Luigi Ferini-Strambi ₁₈ , Peter Young ₁₉ , Anna Heidbreder ₁₉ , Valérie Cochen De Cock _{20,

21} , Brit Mollenhauer _{22,

23} , Friederike Sixel-Döring _{22,

23} , Claudia Trenkwalder _{22,

23} , Karel Sonka ₂₄ , David Kemlink ₂₄ , Michela Figorilli ₂₅ , Monica Puligheddu ₂₅ , Femke Dijkstra _{26,

27} , Mineke Viaene _{26,

27} , Wolfang Oertel ₂₈ , Marco Toffoli _{29,

30} , Gian Luigi Gigli _{31,

32} , Mariarosaria Valente _{29,

31} , Jean-François Gagnon _{33,

34} , Mike A Nalls ₃₅ , Andrew B Singleton ₆ , ₄ , Alex Desautels _{33,

36} , Jacques Y Montplaisir _{33,

37} , Paul Cannon ₄ , Owen A Ross ₃₈ , Bradley F Boeve ₃₉ , Nicolas Dupré _{40,

41} , Edward A Fon _{2,

5} , Ronald B Postuma _{2,

5,

33} , Lasse Pihlstrøm ₁₂ , Guy A Rouleau _{1,

2,

5} , Ziv Gan-Or _{1,

2,

5}

Affiliation

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Department of Medicine, Imperial College London, London, United Kingdom.
23andMe, Mountain View, CA.
Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Sleep Disorders Unit, Pitié-Salpêtrière Hospital, Institute for Brain and Spinal Cord, and Sorbonne University, Paris, France.
Oxford Parkinson's Disease Center, University of Oxford, Oxford, United Kingdom.
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui de Chauliac Hospital, University Hospital of Montpellier, University of Montpellier, Montpellier, France.
Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Department of Neurology, Oslo University Hospital, Oslo, Norway.
Institue of Clinical Medicine, University of Oslo, Oslo, Norway.
Department of Clinical Neurophysiology and Sleep Center, University Hospital of Lille, University of Lille North of France, Lille, France.
Sleep Disorder Unit, Carémeau Hospital, University Hospital of Nîmes, Nîmes, France.
Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum, University of Bologna, Bologna, Italy.
Institute of Neurological Sciences, Scientific Institute for Research and Health Care, Bologna, Italy.
Department of Neurological Sciences, Vita-Salute San Raffaele University, Milan, Italy.
Department of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany.
Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France.
EuroMov, University of Montpellier, Montpellier, France.
Paracelsus Elena Clinic, Kassel, Germany.
Department of Neurosurgery, University Medical Center Göttingen, Göttingen, Germany.
Department of Neurology and Center of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy.
Laboratory for Sleep Disorders, St Dimpna Regional Hospital, Geel, Belgium.
Department of Neurology, St Dimpna Regional Hospital, Geel, Belgium.
Department of Neurology, Philipps University, Marburg, Germany.
Department of Medicine, University of Udine, Udine, Italy.
Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, UK.
Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
Department of Mathematics, Informatics, and Physics, University of Udine, Udine, Italy.
Center for Advanced Studies in Sleep Medicine, Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montreal, Quebec, Canada.
Department of Psychology, Université du Québec à Montréal, Montréal, QC, Canada.
Data Tecnica International, Glen Echo, MD.
Department of Neurosciences, University of Montreal, Montreal, Quebec, Canada.
Department of Psychiatry, University of Montreal, Montreal, Quebec, Canada.
Departments of Neuroscience and Clinical Genomics, Mayo Clinic, Jacksonville, FL.
Department of Neurology, Mayo Clinic, Rochester, MN.
Division of Neurosciences, University Hospital of Quebec, Laval University, Quebec City, Quebec, Canada.
Department of Medicine, Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.

Rapid eye movement sleep behavior disorder (RBD) is a prodromal synucleinopathy, as >80% will eventually convert to overt synucleinopathy. We performed an in‐depth analysis of the SNCA locus to identify RBD‐specific risk variants.

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