<i>LRRK2</i> mutation analysis in Parkinson disease families with evidence of linkage to PARK8

Abstract

We have identified five novel variants in LRRK2, with two of these in the N-terminal region of LRRK2, where no pathogenic substitutions have been previously reported. If confirmed to be causative, these mutations would broaden the potential mechanisms whereby mutations in LRRK2 result in Parkinson disease.