The Role of LRRK2 in Parkinson's Disease

This thesis focuses on the role of the leucine rich repeat kinase 2 (LRRK2) gene in Parkinson’s disease (PD). PD is the second most frequent human neurodegenerative disorder after Alzheimer’s disease. The etiology of PD remains unknown in most cases, but several genetically-determined forms have been recently identified, which are greatly promoting our understanding of the disease mechanisms. Mutations in the LRRK2 gene were initially identified through positional cloning within the PARK8 locus in families with autosomal dominant inheritance of PD. Subsequent studies, included some of those described in this thesis, have delineated LRRK2 mutations as the most frequent, known cause of familial and sporadic PD.