Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease
June 2011
in “
Movement Disorders
”
TLDR The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
The document from 2011 presents two separate studies. The first study involved a kin-cohort analysis of 2,000 Parkinson's disease (PD) patients, primarily of Italian origin, to estimate the penetrance of the LRRK2-G2019S mutation. It included 24 G2019S-carriers and analyzed 154 first-degree and 190 second-degree relatives, finding a penetrance of 12% at age 60, 23% at age 70, and 33% at age 80, suggesting that the lifetime penetrance of this mutation is usually not more than 25% to 35%. The second study focused on the effects of finasteride on 10 patients with Tourette syndrome (TS), showing significant reductions in tic severity and obsessive-compulsive symptoms, with p-values less than .0001 for tics and .028 for compulsions, indicating finasteride's potential as a therapeutic option for adult male TS patients.
