Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson's disease pathogenesis.

Autor: Somerville EN; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.; Department of Human Genetics, McGill University, Montréal, QC, Canada., James A; CENTOGENE GmbH, Rostock, Germany., Beetz C; CENTOGENE GmbH, Rostock, Germany., Schwieger R; CENTOGENE GmbH, Rostock, Germany., Barrel G; CENTOGENE GmbH, Rostock, Germany., Kandaswamy KK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; CENTOGENE GmbH, Rostock, Germany., Iurascu MI; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; CENTOGENE GmbH, Rostock, Germany., Bauer P; CENTOGENE GmbH, Rostock, Germany., Ta M; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Data Tecnica International, Washington, DC, USA., Iwaki H; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Data Tecnica International, Washington, DC, USA., Senkevich K; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Yu E; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.; Department of Human Genetics, McGill University, Montréal, QC, Canada., Alcalay RN; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Gan-Or Z; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Sep 16. Date of Electronic Publication: 2024 Sep 16.

NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts.

Autor: Somerville EN; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada., Krohn L; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada., Yu E; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada., Rudakou U; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada., Senkevich K; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada., Ruskey JA; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada., Asayesh F; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada., Ahmad J; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada., Spiegelman D; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada., Dauvilliers Y; National Reference Centre for Orphan Diseases, Narcolepsy, Rare hypersomnias, Sleep Unit, Department of Neurology, CHU Montpellier, Institute for Neurosciences of Montpellier INM, Univ Montpellier, INSERM, Montpellier, France., Arnulf I; Sleep Disorders Unit, Sorbonne University, Institut du Cerveau- Paris Brain Institute- ICM, Inserm, CNRS, AP-HP, Hôpital de la Pitié Salpêtrière, Paris, France., Hu MTM; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Montplaisir JY; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur 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-Coeur 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-Coeur de Montréal, Montréal, Quebec, Canada; Department of Neurosciences, Université de Montréal, Montréal, Quebec, Canada., Ibrahim A; Department of Neurology, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria., Stefani A; Department of Neurology, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria., Högl B; Department of Neurology, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria., Gigli GL; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy; Department of Medicine (DAME), University of Udine, Udine, Italy., Valente M; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy; Department of Medicine (DAME), University of Udine, Udine, Italy., Janes F; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy., Bernardini A; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy., Dusek P; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., 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., Plazzi G; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy., Antelmi E; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy; Department of Neurosciences, Neurology Unit, Movement Disorders Division, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Biscarini F; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy., Mollenhauer B; Department of Neurology, University Medical Centre Göttingen, Göttingen, Germany; Paracelsus-Elena-Klinik, Kassel, Germany., Trenkwalder C; Department of Neurology, University Medical Centre Göttingen, Göttingen, Germany; Paracelsus-Elena-Klinik, Kassel, Germany., Sixel-Doring F; Paracelsus-Elena-Klinik, Kassel, Germany; Department of Neurology, Philipps University, Marburg, Germany., 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., De Cock VC; Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France; EuroMov, University of Montpellier, Montpellier, France., Oertel W; Department of Neurology, Philipps University, Marburg, Germany., Janzen A; Department of Neurology, Philipps University, Marburg, Germany., Ferini-Strambi L; Department of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy., Heibreder A; Department of Neurology, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria; Department of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany., Monaca CC; Department of Clinical Neurophysiology and Sleep Center, University Lille North of France, CHU Lille, Lille, France., Abril B; Sleep disorder Unit, Carémeau Hospital, University Hospital of Nîmes, France., Dijkstra F; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium; Department of Neurology, University Hospital Antwerp, Edegem, Antwerp, Belgium., Viaene M; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium., Boeve BF; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Postuma RB; The Neuro (Montréal Neurological Institute-Hospital), 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-Coeur de Montréal, Montréal, Quebec, Canada., Rouleau GA; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada., Gan-Or Z; The Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address: ziv.gan-or@mcgill.ca.

Publikováno v: Neurobiology of aging [Neurobiol Aging] 2023 Jul; Vol. 127, pp. 94-98. Date of Electronic Publication: 2023 Mar 08.