Interesting and important observation as momentum builds around the study of manifesting and non manifesting carriers of LRRK2 mutations...
Mov Disord. 2014 Jun 5. doi: 10.1002/mds.25931. [Epub ahead of print]
Yahalom G, Orlev Y, Cohen OS, Kozlova E, Friedman E, Inzelberg R, Hassin-Baer S.
INTRODUCTION:
In this retrospective study, we compared motor disease progression in Ashkenazi-Jewish (AJ) Parkinson's disease (PD) patients carrying the LRRK2*G2019S mutation with that of noncarriers.
METHODS:
Consecutive PD patients were recruited between 2004 and 2011. Disease progression of carriers versus noncarriers was compared using survival analysis, where the end-point was the time from PD onset to reaching Hoehn and Yahr stage 3 (HY3).
RESULTS:
Overall, 405 AJ PD patients (males = 241[60%]) were genotyped, of whom 60 (males = 30) were LRRK2*G2019S mutation carriers. Time to HY3 did not differ significantly between mutation carriers and noncarriers (hazard ratio = 1.21, 95%CI = 0.83-1.77, P = 0.33). Age at PD onset was younger for carriers than for noncarriers (59.1 ± 9.8 vs. 63.2 ± 12.0 years, respectively; P = 0.005). In both groups, young age at onset was strongly associated with longer time to HY3, (P < 0.001).
CONCLUSION:
The LRRK2*G2019S mutation status has no discernible effect on the rate of motor disease progression in AJ PD patients.
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