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.
Jazyk:	angličtina
Zdroj:	Neurobiology of aging [Neurobiol Aging] 2023 Jul; Vol. 127, pp. 94-98. Date of Electronic Publication: 2023 Mar 08.
DOI:	10.1016/j.neurobiolaging.2023.03.002
Abstrakt:	NPC1 encodes a lysosomal protein involved in cholesterol transport. Biallelic mutations in this gene may lead to Niemann-Pick disease type C (NPC), a lysosomal storage disorder. The role of NPC1 in alpha synucleinopathies is still unclear, as different genetic, clinical, and pathological studies have reported contradictory results. This study aimed to evaluate the association of NPC1 variants with the synucleinopathies Parkinson's disease (PD), dementia with Lewy bodies (DLB), and rapid eye movement-sleep behavior disorder (RBD). We analyzed common and rare variants from 3 cohorts of European descent: 1084 RBD cases and 2945 controls, 2852 PD cases and 1686 controls, and 2610 DLB cases and 1920 controls. Logistic regression models were used to assess common variants while optimal sequence Kernel association tests were used to assess rare variants, both adjusted for sex, age, and principal components. No variants were associated with any of the synucleinopathies, supporting that common and rare NPC1 variants do not play an important role in alpha synucleinopathies. (Copyright © 2023 Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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