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

L. Pavelka*, A. Rauschenberger, Z. Landoulsi, S. Pachchek, P. May, E. Glaab, R. Krüger, Geeta Acharya, Gloria Aguayo, Myriam Alexandre, Muhammad Ali, Dominic Allen, Wim Ammerlann, Rudi Balling, Michele Bassis, Katy Beaumont, Regina Becker, Camille Bellora, Guy Berchem, Daniela BergAlexandre Bisdorff, Kathrin Brockmann, Jessica Calmes, Lorieza Castillo, Gessica Contesotto, Nico Diederich, Rene Dondelinger, Daniela Esteves, Guy Fagherazzi, Jean Yves Ferrand, Manon Gantenbein, Thomas Gasser, Piotr Gawron, Soumyabrata Ghosh, Enrico Glaab, Clarissa Gomes, Elisa Gómez De Lope, Anne Marie Hanff, Maxime Hansen, Rejko Krüger*, Pauline Lambert, Michel Mittelbronn, Kathleen Mommaerts, Ulf Nehrbass, Sarah Nickels, Laure Pauly, Magali Perquin, Estelle Sandt, Kate Sokolowska, Michel Vaillant, on behalf of the NCER-PD Consortium

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Several phenotypic differences observed in Parkinson’s disease (PD) patients have been linked to age at onset (AAO). We endeavoured to find out whether these differences are due to the ageing process itself by using a combined dataset of idiopathic PD (n = 430) and healthy controls (HC; n = 556) excluding carriers of known PD-linked genetic mutations in both groups. We found several significant effects of AAO on motor and non-motor symptoms in PD, but when comparing the effects of age on these symptoms with HC (using age at assessment, AAA), only positive associations of AAA with burden of motor symptoms and cognitive impairment were significantly different between PD vs HC. Furthermore, we explored a potential effect of polygenic risk score (PRS) on clinical phenotype and identified a significant inverse correlation of AAO and PRS in PD. No significant association between PRS and severity of clinical symptoms was found. We conclude that the observed non-motor phenotypic differences in PD based on AAO are largely driven by the ageing process itself and not by a specific profile of neurodegeneration linked to AAO in the idiopathic PD patients.

Original languageEnglish
Article number102
Journalnpj Parkinson's Disease
Volume8
Issue number1
DOIs
Publication statusPublished - 9 Aug 2022

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