Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore R Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio F Mata, Niccolò E Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein
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.
期刊介绍:
Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.