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Start Over Author "Postuma R" Journal parkinsonism & related disorders
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2. Longitudinal changes in cognition in early Parkinson's disease patients with REM sleep behavior disorder

Author

Chahine, L.M., primary, Xie, S.X., additional, Simuni, T., additional, Tran, B., additional, Postuma, R., additional, Amara, A., additional, Oertel, W.H., additional, Iranzo, A., additional, Scordia, C., additional, Fullard, M., additional, Linder, C., additional, Purri, R., additional, Darin, A., additional, Rennert, L., additional, Videnovic, A., additional, Del Riva, P., additional, and Weintraub, D., additional

Published
2016
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4. LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder

Author

Peter Young, Birgit Högl, Wolfgang H. Oertel, Michele T.M. Hu, Giuseppe Plazzi, Valérie Cochen De Cock, Dan Spiegelman, Yves Dauvilliers, Elena Antelmi, Jacques Montplaisir, Ambra Stefani, Friederike Sixel-Döring, Jennifer A. Ruskey, Christelle Charley Monaca, Brit Mollenhauer, Ziv Gan-Or, Isabelle Arnulf, Guy A. Rouleau, Ronald B. Postuma, Bouchra Ouled Amar Bencheikh, Claudia Trenkwalder, Luigi Ferini-Strambi, Jean-François Gagnon, Anna Heidbreder, Ouled Amar Bencheikh, Bouchra, Ruskey, Jennifer A., Arnulf, Isabelle, Dauvilliers, Yve, Monaca, Christelle Charley, De Cock, Valérie Cochen, Gagnon, Jean-Françoi, Spiegelman, Dan, Hu, Michele T.M., Högl, Birgit, Stefani, Ambra, Ferini-Strambi, Luigi, Plazzi, Giuseppe, Antelmi, Elena, Young, Peter, Heidbreder, Anna, Mollenhauer, Brit, Sixel-Döring, Friederike, Trenkwalder, Claudia, Oertel, Wolfgang, Montplaisir, Jacques Y., Postuma, Ronald B., Rouleau, Guy A., Gan-Or, Ziv, Ouled Amar Bencheikh, B., Ruskey, J. A., Arnulf, I., Dauvilliers, Y., Monaca, C. C., De Cock, V. C., Gagnon, J. -F., Spiegelman, D., M. T. M., Hu, Hogl, B., Stefani, A., Ferini-Strambi, L., Plazzi, G., Antelmi, E., Young, P., Heidbreder, A., Mollenhauer, B., Sixel-Doring, F., Trenkwalder, C., Oertel, W., Montplaisir, J. Y., Postuma, R. B., Rouleau, G. A., Gan-Or, Z., Service des Pathologies du sommeil [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurophysiologie clinique (CHRU Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Euromov (EuroMov), Université de Montpellier (UM), and Clinique Beau Soleil [Montpellier]

Subjects
Male, 0301 basic medicine, REM sleep behavior disorder, Disease, Biology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Genetic, Genetics, medicine, LRRK2, Parkinson disease, Neurology, Geriatrics and Gerontology, Neurology (clinical), Humans, Coding region, Dementia, Aged, Synucleinopathies, Haplotype, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Middle Aged, Protective Factors, medicine.disease, 3. Good health, 030104 developmental biology, Haplotypes, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract

Background: Individuals with rapid eye movement (REM)-sleep behavior disorder (RBD) are likely to progress to synucleinopathies, mainly Parkinson's disease (PD), dementia with Lewy-bodies (DLB) and multiple system atrophy (MSA). The genetics of RBD only partially overlaps with PD and DLB, and the role of LRRK2 variants in risk for RBD is still not clear.Methods: The full coding sequence, exon-intron boundaries and 5′ and 3′ untranslated regions of LRRK2 were sequenced using targeted next-generation sequencing. A total of 350 RBD patients and 869 controls were sequenced, and regression and burden models were used to examine the association between LRRK2 variants and RBD.Results: No pathogenic mutations that are known to cause PD were identified in RBD patients. The p.N551K-p.R1398H-p.K1423K haplotype was associated with a reduced risk for RBD (OR = 0.66, 95% CI 0.44–0.98, p = 0.0055 for the tagging p.N551K substitution). A common variant, p.S1647T, was nominally associated with risk for RBD (OR = 1.28, 95% CI 1.05–1.56, p = 0.029). Burden analysis identified associations with domains and exons that were derived by the variants of the protective haplotype, and no burden of other rare variants was identified.Conclusions: Carriers of the LRRK2 p.N551K-p.R1398H-p.K1423K haplotype have a reduced risk for developing RBD, yet PD-causing mutations probably have minor or no role in RBD. Additional work is needed to confirm these results and to identify the mechanism associated with reduced risk for RBD.

Published
2018

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