Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal dominant Parkinson's disease. We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson's disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5%) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson's disease. Thus, our results suggest that a single LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease.
Bibliographical noteFunding Information:
This project was supported by NS37167, AG18736, and M01 RR-00750. CP-R is a recipient of an FPI fellowship from the Ministerio de Educación y Ciencia (GEN2001-4851-C06-01). We thank Dr Ira Shoulson for his leadership in this collaborative study and the participants for their involvement.