Data di Pubblicazione:
2024
Abstract:
Background: Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype–phenotype relationships at a global scale. Objective: To identify the multi-ancestry spectrum of monogenic PD. Methods: The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes. In contrast, the Global Parkinson's Genetics Program's Monogenic Network took a different approach by targeting PD centers underrepresented or not yet represented in the medical literature. Results: In this article, we describe combining both efforts in a merger project resulting in a global monogenic PD cohort with the buildup of a sustainable infrastructure to identify the multi-ancestry spectrum of monogenic PD and enable studies of factors modifying penetrance and expressivity of monogenic PD. Conclusions: This effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
GP2; MJFF GMPD; Parkinson's disease; monogenic Parkinson's disease; parkinsonism
Elenco autori:
Junker, Johanna; Lange, Lara M; Vollstedt, Eva-Juliane; Roopnarain, Karisha; Doquenia, Maria Leila M; Annuar, Azlina Ahmad; Avenali, Micol; Bardien, Soraya; Bahr, Natascha; Ellis, Melina; Galandra, Caterina; Gasser, Thomas; Heutink, Peter; Illarionova, Anastasia; Kanana, Yuliia; Keller Sarmiento, Ignacio J; Kumar, Kishore R; Lim, Shen-Yang; Madoev, Harutyun; Mata, Ignacio F; Mencacci, Niccolò E; Nalls, Mike A; Padmanabhan, Shalini; Shambetova, Cholpon; Solle, J C; Tan, Ai-Huey; Trinh, Joanne; Valente, Enza Maria; Singleton, Andrew; Blauwendraat, Cornelis; Lohmann, Katja; Fang, Zih-Hua; Klein, Christine
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