Michael J. Fox Foundation LRRK2 Consortium: Geographical differences in returning genetic research data to study participants

摘要

In 2004, several mutations in the gene encoding leucine-rich repeat kinase 2 (LRRK2) were identified as being a genetic cause for Parkinson disease (PD). The most common LRRK2 mutation, G2019S, has been identified in 1% of all sporadic PD cases and in 4% of all familial PD cases. Among selected populations, the frequency of the G2019S mutation is much higher. Up to 18% of all Ashkenazi Jewish PD cases and 40% of North African Berbers with familial PD carry the G2019S mutation. PD penetrance is age dependent and very controversial, with estimates ranging between 24 and 80%.Clinically, LRRK2-related PD is indistinguishable from idiopathic PD on an individual patient level.As a group, mutation carriers may have less tremor and more postural and gait difficulties.