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Journal Articles Movement Disorders Year : 2021

Comprehensive Analysis of Familial Parkinsonism Genes in Rapid‐Eye‐Movement Sleep Behavior Disorder

Kheireddin Mufti
  • Function : Author
Uladzislau Rudakou
Eric Yu
  • Function : Author
Lynne Krohn
Jennifer Ruskey
  • Function : Author
Farnaz Asayesh
  • Function : Author
Sandra Laurent
  • Function : Author
Dan Spiegelman
  • Function : Author
Michele Hu
  • Function : Author
Jacques Montplaisir
  • Function : Author
Jean-François Gagnon
  • Function : Author
Alex Desautels
Gian Luigi Gigli
Mariarosaria Valente
Francesco Janes
  • Function : Author
Birgit Högl
  • Function : Author
Ambra Stefani
Evi Holzknecht
  • Function : Author
Karel Šonka
  • Function : Author
David Kemlink
Wolfgang Oertel
  • Function : Author
Annette Janzen
  • Function : Author
Giuseppe Plazzi
Elena Antelmi
Michela Figorilli
Monica Puligheddu
Brit Mollenhauer
Claudia Trenkwalder
  • Function : Author
Friederike Sixel-Döring
  • Function : Author
Anna Heidbreder
Luigi Ferini-Strambi
Femke Dijkstra
Mineke Viaene
Bradley Boeve
  • Function : Author
Ronald Postuma
  • Function : Author
Guy Rouleau
Ziv Gan-Or
Michele T.M. Hu
Jean‐françois Gagnon
  • Function : Author
Friederike Sixel‐döring
  • Function : Author
Luigi Ferini‐strambi
  • Function : Author
Ziv Gan‐or

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.

Dates and versions

hal-03653760 , version 1 (28-04-2022)

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Kheireddin Mufti, Uladzislau Rudakou, Eric Yu, Lynne Krohn, Jennifer Ruskey, et al.. Comprehensive Analysis of Familial Parkinsonism Genes in Rapid‐Eye‐Movement Sleep Behavior Disorder. Movement Disorders, 2021, 36 (1), pp.235-240. ⟨10.1002/mds.28318⟩. ⟨hal-03653760⟩
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