LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease

被引：0
作者：
Z. Gan-Or
A. Bar-Shira
A. Mirelman
T. Gurevich
M. Kedmi
N. Giladi
A. Orr-Urtreger
机构：
[1] Tel Aviv Sourasky Medical Center,Genetic Institute
[2] Tel Aviv Sourasky Medical Center,Movement Disorders Unit Parkinson Center Department of Neurology
[3] Tel Aviv University,The Sackler Faculty of Medicine
来源：
neurogenetics | 2010年 / 11卷
关键词：
Parkinson’s disease; Initial symptoms; GBA; Glucocerebrosidase; LRRK2;
D O I：
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中图分类号：
学科分类号：
摘要：
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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页码：121 / 125
页数：4
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