Open AccessClinical Heterogeneity of the LRRK2 G2019S Mutation
Author(s) -
Spiridon Papapetropoulos,
Carlos Singer,
Owen A. Ross,
Mathias Toft,
Joseph L. Johnson,
Matthew J. Farrer,
Deborah C. Mash
Publication year - 2006
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.63.9.1242
Subject(s) - lrrk2 , protein kinase domain , parkinsonism , disease , mutation , medicine , phenotype , kinase , parkinson's disease , genetics , biology , gene , mutant
Several pathogenic mutations have been reported in the leucine-rich repeat kinase 2 gene (LRRK2) that cause parkinsonism. The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease.