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Comprehensive Analysis of Familial Parkinsonism Genes in Rapid‐Eye‐Movement Sleep Behavior Disorder
- Source :
- Movement Disorders, Movement Disorders, 2021, 36 (1), pp.235-240. ⟨10.1002/mds.28318⟩, Movement disorders: video, videotape supplements
- Publication Year :
- 2021
- Publisher :
- HAL CCSD, 2021.
-
Abstract
- International audience; 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.
- Subjects :
- 0301 basic medicine
Heterozygote
Parkinson's disease
MESH: Sleep
[SDV]Life Sciences [q-bio]
REM sleep behavior disorder
Rapid eye movement sleep
Disease
genetic analysis
Compound heterozygosity
Genetic analysis
03 medical and health sciences
0302 clinical medicine
Parkinsonian Disorders
Medicine
Humans
MESH: Heterozygote
Genetics
MESH: Humans
business.industry
MESH: Parkinsonian Disorders
PARK7
Parkinson Disease
medicine.disease
LRRK2
3. Good health
030104 developmental biology
Neurology
MESH: REM Sleep Behavior Disorder
Human medicine
Neurology (clinical)
business
Sleep
030217 neurology & neurosurgery
MESH: Parkinson Disease
Subjects
Details
- Language :
- English
- ISSN :
- 08853185 and 15318257
- Database :
- OpenAIRE
- Journal :
- Movement Disorders, Movement Disorders, 2021, 36 (1), pp.235-240. ⟨10.1002/mds.28318⟩, Movement disorders: video, videotape supplements
- Accession number :
- edsair.doi.dedup.....477997d598700bcb6755c87370c28a67