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Investigation of age-at-onset genetic modifier loci in LRRK2 parkinsonism

Institution: Institute of Neurogenetics, University of Luebeck
Hauptantragsteller: Joanne Trinh
Förderlinie:
Erst- und Zweitantragstellung
World map illustrating the international report of LRRK2 mutation carriers Legend: Countries are in bold, number of centers involved are indicated underneath and the number of carriers from the initial survey is written (N)

Parkinson’s disease (PD) is a common neurodegenerative disorder characterized clinically by motor dysfunction and currently affecting over 10 million patients world-wide. Some forms of PD are inherited and runs in families. The most common genetic cause of PD is a mutation Leucine rich repeat kinase 2 (LRRK2). The LRRK2 p.G2019S mutation accounts for up to 40% of familial PD in the Arab Berber population and 15-20% in Ashkenazi Jewish population. Even though patients have the exact same mutation, some patients can get PD at age 20 and some remain healthy at age 90. This project will utilize an international cohort to investigate genetic factors that can modulate age at onset which allows the identification of endogenous protective factors and specific pathways that can delay the onset of PD. 

Weiterführende Informationen finden Sie unter:

https://www.neurogenetics-luebeck.de/research-sections/translational-neurogenetics/integrative-omics-in-parkinson-disease/

http://protect-move.de/joanne-trinh/