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SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder.
Rudakou, Uladzislau; Futhey, Naomi C; Krohn, Lynne; Ruskey, Jennifer A; Heilbron, Karl; Cannon, Paul; Alam, Armaghan; Arnulf, Isabelle; Hu, Michele T M; Montplaisir, Jacques Y; Gagnon, Jean-François; Desautels, Alex; Dauvilliers, Yves; Toffoli, Marco; Gigli, Gian Luigi; Valente, Mariarosaria; Högl, Birgit; Stefani, Ambra; Holzknecht, Evi; Sonka, Karel; Kemlink, David; Oertel, Wolfang; Janzen, Annette; Plazzi, Giuseppe; Antelmi, Elena; Figorilli, Michela; Puligheddu, Monica; Mollenhauer, Brit; Trenkwalder, Claudia; Sixel-Döring, Friederike; De Cock, Valérie Cochen; Monaca, Christelle Charley; Heidbreder, Anna; Ferini-Strambi, Luigi; Dijkstra, Femke; Viaene, Mineke; Abril, Beatriz; Boeve, Bradley F; Postuma, Ronald B; Rouleau, Guy A; Gan-Or, Ziv.
Afiliación
  • Rudakou U; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
  • Futhey NC; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
  • Krohn L; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
  • Ruskey JA; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
  • Heilbron K; 23andMe, Inc., Sunnyvale, CA, USA.
  • Cannon P; 23andMe, Inc., Sunnyvale, CA, USA.
  • Alam A; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
  • Arnulf I; Sleep Disorders Unit, Pitié Salpêtrière Hospital, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Sorbonne University, Paris, France.
  • Hu MTM; Oxford Parkinson's Disease Centre (OPDC), University of Oxford, Oxford, UK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Montplaisir JY; 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.
  • Gagnon JF; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Department of Psychology, Université du Québec à Montréal, Montréal, Quebec, Canada.
  • Desautels A; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Department of Neurosciences, Université de Montréal, Montréal, Quebec, Canada.
  • Dauvilliers Y; National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, Montpellier, France.
  • Toffoli M; Department of Medicine (DAME), University of Udine, Udine, Italy; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
  • Gigli GL; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy; DMIF, University of Udine, Udine, Italy.
  • Valente M; Department of Medicine (DAME), University of Udine, Udine, Italy; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
  • Högl B; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Stefani A; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Holzknecht E; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Sonka K; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Kemlink D; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Oertel W; Department of Neurology, Philipps-University Marburg, Marburg, Germany.
  • Janzen A; Department of Neurology, Philipps-University Marburg, Marburg, Germany.
  • Plazzi G; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Antelmi E; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Figorilli M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy.
  • Puligheddu M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy.
  • Mollenhauer B; Paracelsus-Elena-Klinik, Kassel, Germany; Department of Neurology, University Medical Centre Goettingen, Goettingen, Germany.
  • Trenkwalder C; Paracelsus-Elena-Klinik, Kassel, Germany; Department of Neurology, University Medical Centre Goettingen, Goettingen, Germany.
  • Sixel-Döring F; Department of Neurology, Philipps-University Marburg, Marburg, Germany; Paracelsus-Elena-Klinik, Kassel, Germany.
  • De Cock VC; Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France; EuroMov, University of Montpellier, Montpellier, France.
  • Monaca CC; University Lille North of France, Department of Clinical Neurophysiology and Sleep Center, CHU Lille, Lille, France.
  • Heidbreder A; Department of Sleep Medicine and Neuromuscular Disorders, University of Muenster, Muenster, Germany.
  • Ferini-Strambi L; Department of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy.
  • Dijkstra F; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium.
  • Viaene M; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium.
  • Abril B; Sleep Disorder Unit, Carémeau Hospital, University Hospital of Nîmes, Nîmes, France.
  • Boeve BF; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
  • Postuma RB; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada.
  • Rouleau GA; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
  • Gan-Or Z; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address: ziv.gan-or@mcgill.ca.
Neurobiol Aging ; 93: 142.e5-142.e7, 2020 09.
Article en En | MEDLINE | ID: mdl-32409254
ABSTRACT
Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson's disease and dementia with Lewy bodies. In the current study, we aimed to evaluate the role of SMPD1 variants in isolated rapid eye movement sleep behavior disorder (iRBD). SMPD1 and its untranslated regions were sequenced using targeted next-generation sequencing in 959 iRBD patients and 1287 controls from European descent. Our study reports no statistically significant association of SMPD1 variants and iRBD. It is hence unlikely that SMPD1 plays a major role in iRBD.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Sueño-Vigilia / Sueño REM / Esfingomielina Fosfodiesterasa / Variación Genética / Estudios de Asociación Genética / Resultados Negativos Límite: Female / Humans / Male Idioma: En Revista: Neurobiol Aging Año: 2020 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Sueño-Vigilia / Sueño REM / Esfingomielina Fosfodiesterasa / Variación Genética / Estudios de Asociación Genética / Resultados Negativos Límite: Female / Humans / Male Idioma: En Revista: Neurobiol Aging Año: 2020 Tipo del documento: Article País de afiliación: Canadá