Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects

Autor: Lynne Krohn, Karl Heilbron, Cornelis Blauwendraat, Regina H. Reynolds, Eric Yu, Konstantin Senkevich, Uladzislau Rudakou, Mehrdad A. Estiar, Emil K. Gustavsson, Kajsa Brolin, Jennifer A. Ruskey, Kathryn Freeman, Farnaz Asayesh, Ruth Chia, Isabelle Arnulf, Michele T. M. Hu, Jacques Y. Montplaisir, Jean-François Gagnon, Alex Desautels, Yves Dauvilliers, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Birgit Högl, Ambra Stefani, Abubaker Ibrahim, Karel Šonka, David Kemlink, Wolfgang Oertel, Annette Janzen, Giuseppe Plazzi, Francesco Biscarini, Elena Antelmi, Michela Figorilli, Monica Puligheddu, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel-Döring, Valérie Cochen De Cock, Christelle Charley Monaca, Anna Heidbreder, Luigi Ferini-Strambi, Femke Dijkstra, Mineke Viaene, Beatriz Abril, Bradley F. Boeve, andMe Research Team, Sonja W. Scholz, Mina Ryten, Sara Bandres-Ciga, Alastair Noyce, Paul Cannon, Lasse Pihlstrøm, Mike A. Nalls, Andrew B. Singleton, Guy A. Rouleau, Ronald B. Postuma, Ziv Gan-Or

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)

REM-sleep behavior disorder often precedes Parkinson’s disease or dementia. Here, the authors perform a genome-wide association study for REM-sleep behavior disorder, and discover how it potentially affects gene expression in the brain.

Externí odkaz: https://doaj.org/article/59eca1d6c47b4c98aed465f4c7a60228

Rhythm disturbances as a potential early marker of Parkinson’s disease in idiopathic REM sleep behavior disorder

Autor: Valérie Cochen De Cock, Delphine deVerbizier, Marie Christine Picot, Loïc Damm, Beatriz Abril, Florence Galtier, Valérie Driss, Cindy Lebrun, Nicolas Pageot, Aurélie Giordano, Chloé Gonzalvez, Pascale Homeyer, Bertrand Carlander, Giovanni Castelnovo, Christian Geny, Benoit Bardy, Simone Dalla Bella

Publikováno v: Annals of Clinical and Translational Neurology, Vol 7, Iss 3, Pp 280-287 (2020)

Abstract Objective We aimed to identify timing distortions in production and perception of rhythmic events in patients with idiopathic REM sleep behavior disorder (iRBD) as early markers of Parkinson's disease (PD). Methods Rhythmic skills, clinical

Externí odkaz: https://doaj.org/article/84504874926c44df966e770a84ea649d

Classifying Idiopathic Rapid Eye Movement Sleep Behavior Disorder, Controls, and Mild Parkinson's Disease Using Gait Parameters

Autor: Valérie Cochen De Cock, Dobromir Dotov, Sandy Lacombe, Marie Christine Picot, Florence Galtier, Valérie Driss, Castelnovo Giovanni, Christian Geny, Beatriz Abril, Loic Damm, Stefan Janaqi

Publikováno v: Movement Disorders. 37:842-846

Subtle gait changes associated with idiopathic rapid eye movement sleep behavior disorder (iRBD) could allow early detection of subjects with future synucleinopathies.The aim of this study was to create a multiclass model, using statistical learning

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a9a483e2e350b6a2eac7ffc4fd42d1
https://doi.org/10.1002/mds.28894

NPC1variants are not associated with Parkinson’s Disease, REM-sleep behaviour disorder or Dementia with Lewy bodies in European cohorts

Autor: Emma N. Somerville, Lynne Krohn, Eric Yu, Uladzislau Rudakou, Konstantin Senkevich, Jennifer A. Ruskey, Farnaz Asayesh, Jamil Ahmad, Dan Spiegelman, Yves Dauvilliers, Isabelle Arnulf, Michele T.M. Hu, Jacques Y. Montplaisir, Jean-François Gagnon, Alex Desautels, Abubaker Ibrahim, Ambra Stefani, Birgit Hogl, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Petr Dusek, Karel Sonka, David Kemlink, Giuseppe Plazzi, Elena Antelmi, Francesco Biscarini, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel-Doring, Michela Figorilli, Monica Puligheddu, Valerie Cochen De Cock, Luigi Ferini-Strambi, Anna Heibreder, Christelle Charley Monaca, Beatriz Abril, Femke Dijkstra, Mineke Viaene, Bradley F. Boeve, Ronald B. Postuma, Guy A. Rouleau, Ziv Gan-Or

NPC1encodes a lysosomal protein involved in cholesterol transport. Biallelic mutations in this gene may lead to Nieman-Pick disease type C, a lysosomal storage disorder. The role ofNPC1in alpha synucleinopathies is still unclear, as different genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3e5f2cdee58b1a8786e8a8370bf43054
https://doi.org/10.1101/2022.11.08.22281508

Rhythm disturbances as a potential early marker of Parkinson’s disease in idiopathic REM sleep behavior disorder

Autor: Christian Geny, Valérie Driss, Simone Dalla Bella, Pascale Homeyer, Chloé Gonzalvez, Bertrand Carlander, Benoît G. Bardy, Valérie Cochen De Cock, Florence Galtier, Loic Damm, Nicolas Pageot, Aurélie Giordano, C. Lebrun, Beatriz Abril, Marie Christine Picot, Delphine de Verbizier, Giovanni Castelnovo

Publikováno v: Annals of Clinical and Translational Neurology, Vol 7, Iss 3, Pp 280-287 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2020, 7 (3), pp.280-287. ⟨10.1002/acn3.50982⟩

International audience; Objective: We aimed to identify timing distortions in production and perception of rhythmic events in patients with idiopathic REM sleep behavior disorder (iRBD) as early markers of Parkinson's disease (PD).Methods: Rhythmic s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d5bfb22c74640a5a5b1515abc690308
https://doaj.org/article/84504874926c44df966e770a84ea649d