Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, et al.

Abstract summary

Co-identified LRRK2 (leucine-rich repeat kinase 2) as the causal gene for the PARK8 locus linked to familial Parkinson's disease. Demonstrated that LRRK2 is a large GTPase/kinase expressed in neurons and microglia. This discovery opened LRRK2 kinase inhibition as a therapeutic strategy.

Evidence labels

human genetics

Targets

LRRK2

Diseases

Parkinson's disease

Species

human

Methods

positional cloning, linkage analysis, sequencing

Therapeutic relevance

LRRK2 kinase inhibitors entered clinical trials for Parkinson's disease; LRRK2 is a leading genetic target in PD.

DOI PubMed Full Text

Last reviewed: June 1, 2026