Abstract
GBA and LRRK2 mutations increase susceptibility to Parkinson disease (PD), which is characterized by various disabling symptoms. An extended cohort of 600 Ashkenazi PD patients was screened for the LRRK2 G2019S and for eight GBA mutations. Reported initial symptoms were compared between three genotypic groups of patients: carriers of GBA mutations, carriers of LRRK2 G2019S mutation, and non-carriers. More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances (p = 0.008), while more GBA mutation carriers reported slowness (bradykinesia, p = 0.021). These results suggest distinct effects of LRRK2 or GBA mutations on the initial symptoms of PD.
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Acknowledgments
This work was supported by grants from National Parkinson Foundation, Miami, FL, USA, the Tel Aviv Sourasky Medical Center Grant of Excellence and the Wolfson and Kahn Foundations. The assistance of Ilana Elroi, Shiran Levi, Chen Shifrin, and Orna Moore is acknowledged. The authors report no conflicts of interests.
This work was performed in partial fulfillment of the requirements for a Ph.D. degree of Ziv Gan-Or, Sackler Faculty of Medicine, Tel Aviv University, Israel.
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The experiments presented herein comply with the current laws of Israel, the country in which they were performed.
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Gan-Or, Z., Bar-Shira, A., Mirelman, A. et al. LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease. Neurogenetics 11, 121–125 (2010). https://doi.org/10.1007/s10048-009-0198-9
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DOI: https://doi.org/10.1007/s10048-009-0198-9