Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

Abstract summary

Co-identified LRRK2 mutations as the cause of autosomal-dominant Parkinson's disease in multiple European families. Identified the G2019S mutation (the most common familial PD mutation worldwide) and other LRRK2 variants. Together with Paisán-Ruíz et al. 2004 established LRRK2 as the leading PD drug target.

Evidence labels

Therapeutic relevance

The G2019S mutation identified here is the direct molecular target for LRRK2 kinase inhibitors in clinical development.