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Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder.
Mufti, Kheireddin; Rudakou, Uladzislau; Yu, Eric; Krohn, Lynne; Ruskey, Jennifer A; Asayesh, Farnaz; Laurent, Sandra B; Spiegelman, Dan; Arnulf, Isabelle; Hu, Michele T M; Montplaisir, Jacques Y; Gagnon, Jean-François; Desautels, Alex; Dauvilliers, Yves; Gigli, Gian Luigi; Valente, Mariarosaria; Janes, Francesco; Högl, Birgit; Stefani, Ambra; Holzknecht, Evi; Sonka, Karel; Kemlink, David; Oertel, Wolfgang; Janzen, Annette; Plazzi, Giuseppe; Antelmi, Elena; Figorilli, Michela; Puligheddu, Monica; Mollenhauer, Brit; Trenkwalder, Claudia; Sixel-Döring, Friederike; Cochen De Cock, Valérie; 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.
Afiliação
  • Mufti K; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Rudakou U; Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
  • Yu E; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Krohn L; Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
  • Ruskey JA; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Asayesh F; Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
  • Laurent SB; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Spiegelman D; Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
  • Arnulf I; Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
  • Hu MTM; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
  • Montplaisir JY; Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
  • Gagnon JF; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
  • Desautels A; Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
  • Dauvilliers Y; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
  • Gigli GL; Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.
  • Valente M; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
  • Janes F; Sleep Disorders Unit, Pitié Salpêtrière Hospital, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière and Sorbonne University, Paris, France.
  • Högl B; Oxford Parkinson's Disease Centre (OPDC), University of Oxford, Oxford, United Kingdom.
  • Stefani A; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
  • Holzknecht E; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Québec, Canada.
  • Sonka K; Department of Psychiatry, Université de Montréal, Montréal, Québec, Canada.
  • Kemlink D; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Québec, Canada.
  • Oertel W; Department of Psychology, Université du Québec à Montréal, Montréal, Québec, Canada.
  • Janzen A; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Québec, Canada.
  • Plazzi G; Department of Neurosciences, Université de Montréal, Montréal, Québec, Canada.
  • Antelmi E; National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Montpellier, France.
  • Figorilli M; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
  • Puligheddu M; Department of Medicine, University of Udine, Udine, Italy.
  • Mollenhauer B; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
  • Trenkwalder C; Department of Medicine (DAME), University of Udine, Udine, Italy.
  • Sixel-Döring F; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.
  • Cochen De Cock V; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Monaca CC; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Heidbreder A; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Ferini-Strambi L; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Dijkstra F; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Viaene M; Department of Neurology, Philipps University, Marburg, Germany.
  • Abril B; Department of Neurology, Philipps University, Marburg, Germany.
  • Boeve BF; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Postuma RB; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Rouleau GA; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Gan-Or Z; Neurology Unit, Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Mov Disord ; 36(1): 235-240, 2021 01.
Article em En | MEDLINE | ID: mdl-33001463
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.

CONCLUSION:

Our results do not support a major role for variants in these genes in the risk of iRBD. © 2020 International Parkinson and Movement Disorder Society.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Transtornos Parkinsonianos / Transtorno do Comportamento do Sono REM Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Transtornos Parkinsonianos / Transtorno do Comportamento do Sono REM Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article