Publisher Correction: Age at onset as stratifier in idiopathic Parkinson’s disease – effect of ageing and polygenic risk score on clinical phenotypes

Pavelka, Lukas; Landoulsi, Z.; Krüger, R.; Acharya, Geeta; Aguayo, Gloria; Alexandre, Myriam; Ali, Muhammad; Allen, Dominic; Ammerlann, Wim; Balling, Rudi; Bassis, Michele; Beaumont, Katy; Becker, Regina; Bellora, Camille; Berchem, Guy; Berg, Daniela; Bisdorff, Alexandre; Brockmann, Kathrin; Calmes, Jessica; Castillo, Lorieza; Contesotto, Gessica; Diederich, Nico J.; Dondelinger, Rene; Esteves, Daniela; Fagherazzi, Guy; Ferrand, Jean-Yves; Gantenbein, Manon; Gasser, Thomas; Gawron, Piotr; Ghosh, Soumyabrata; Glaab, Enrico; Gomes, Clarissa P.C.; Lope, Elisa Gómez De; Goncharenko, Nikolai; Graas, Jérôme; Graziano, Mariella; Grouès, Valentin; Grünewald, Anne; Gu, Wanyi; Hammot, Gaël; Hanff, Anne-Ma﻿rie; Hansen, Linda K.; Hansen, Maxime; Heneka, Michael T.; Henry, Estelle; Herbrink, Sylvia; Herenne, Eve; Herzinger, Sascha; Heymann, Michaël; Hu, Michèle; Hundt, A.F; Jacoby, Nadine; Lebioda, Jacek; Jaroz, Yohan; Klopfenstein, Quentin; Krüger, Rejko; Lambert, Pauline; Landoulsi, Zied; Lentz, Roseline; Liepelt, Inga; Liszka, Robert; Longhino, Laura; Lorentz, Victoria; Lupu, Paula Cristina; Mackay, Clare E.; Maetzler, Walter; Marcus, Katrin; Marques, Guilherme Fernandes; Marques, Tainá M.; May, Patrick; McIntyre, Deborah; Mediouni, Chouaib; Meisch, Francoise; Menster, Myriam; Minelli, Maura; Mittelbronn, Michel; Mollenhauer, Brit; Mommaerts, Kathleen; Moreno, Carlos S.; Moudio, Serge; Mühlschlegel, Friedrich; Nati, Romain; Nehrbass, Ulf; Nickels, Sarah Louise; Nicolaı̈, Béatrice; Nicolay, Jean-Paul; Oertel, Wolfgang H.; Ostaszewski, Marek; Pachchek, Sinthuja; Pauly, Claire; Pauly, Laure; Perquin, Magali; Lima, Roslina Ramos; Rauschenberger, Armin; Rawal, Rajesh; Bobbili, Dheeraj Reddy; Romera, Eduardo; Rosety, Isabel; Rump, K. K.; Sandt, Estelle; Satagopam, Venkata; Schlesser, Marc; Schmitt, M; Schmitz, Sabine; Schneider, Reinhard; Schwamborn, Jens Christian; Sharify, Amir; Soboleva, Ekaterina; Sokolowska, Kate; Terwindt, Olivier; Thien, Hermann; Thiry, Elodie; Loo, Rebecca Ting Jiin; Trefois, Christophe; Trouet, Johanna; Tsurkalenko, Olena; Vaillant, Michel; Valenti, M; Boas, Liliana Vilas; Vyas, Maharshi; Wade‐Martins, Richard; Wilmes, Paul

doi:10.1038/s41531-022-00378-9

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“…The current report is a comprehensive genetic description of participants recruited within the monocentric case–control Luxembourg Parkinson’s study, including patients with PD and atypical parkinsonism, with previously described recruitment design and clinical characteristics ( Hipp et al, 2018 ; Pavelka et al, 2022 ). Previous long-read sequencing of GBA1 gene in our cohort revealed that 12.1% of PD patients carried GBA1 variants ( Pachchek et al, 2023 ).…”

Section: Discussionmentioning

confidence: 99%

“…A total of 1,592 individuals (783 cases and 809 neurologically healthy controls) were recruited from March 2015 to December 2022 as part of the Luxembourg Parkinson’s Study, a large longitudinal monocentric study within the framework of the NCER-PD [National Centre for Excellence in Research in PD ( Hipp et al, 2018 ; Pavelka et al, 2022 )]. The most up-to-date diagnostic status of the participants was used at the time of export (July 2023).…”

Section: Methodsmentioning

confidence: 99%

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Genetic landscape of Parkinson’s disease and related diseases in Luxembourg

Landoulsi,

Pachchek,

Bobbili

et al. 2023

Front. Aging Neurosci.

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ObjectivesTo explore the genetic architecture of PD in the Luxembourg Parkinson’s Study including cohorts of healthy people and patients with Parkinson’s disease (PD) and atypical parkinsonism (AP).Methods809 healthy controls, 680 PD and 103 AP were genotyped using the Neurochip array. We screened and validated rare single nucleotide variants (SNVs) and copy number variants (CNVs) within seven PD-causing genes (LRRK2, SNCA, VPS35, PRKN, PARK7, PINK1 and ATP13A2). Polygenic risk scores (PRSs) were generated using the latest genome-wide association study for PD. We then estimated the role of common variants in PD risk by applying gene-set-specific PRSs.ResultsWe identified 60 rare SNVs in seven PD-causing genes, nine of which were pathogenic in LRRK2, PINK1 and PRKN. Eleven rare CNVs were detected in PRKN including seven duplications and four deletions. The majority of PRKN SNVs and CNVs carriers were heterozygous and not differentially distributed between cases and controls. The PRSs were significantly associated with PD and identified specific molecular pathways related to protein metabolism and signal transduction as drivers of PD risk.ConclusionWe performed a comprehensive genetic characterization of the deep-phenotyped individuals of the Luxembourgish Parkinson’s Study. Heterozygous SNVs and CNVs in PRKN were not associated with higher PD risk. In particular, we reported novel digenic variants in PD related genes and rare LRRK2 SNVs in AP patients. Our findings will help future studies to unravel the genetic complexity of PD.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%