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Aging and disease    2016, Vol. 7 Issue (3) : 230-236     DOI: 10.14336/AD.2015.1026
Original Article |
Effect of a Leucine-rich Repeat Kinase 2 Variant on Motor and Non-motor Symptoms in Chinese Parkinson’s Disease Patients
Sun Qian, Wang Tian, Jiang Tian-Fang, Huang Pei, Li Dun-Hui, Wang Ying, Xiao Qin, Liu Jun*, Chen Sheng-Di*
Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
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Abstract  

The G2385R variant of the leucine-rich repeat kinase 2 (LRRK2) is strongly associated with Parkinson’s disease (PD) in Asian populations. However, it is still unclear whether the clinical phenotype of PD patients with the G2385R variant can be distinguished from that of patients with idiopathic PD. In this study, we investigated motor and non-motor symptoms of LRRK2 G2385R variant carriers in a Chinese population. We genotyped 1031 Chinese PD patients for the G2385R variant of the LRRK2 gene, and examined the demographic and clinical characteristics of LRRK2 G2385R variant carrier and non-carrier PD patients. LRRK2 G2385R variant carriers were more likely to present the postural instability and gait difficulty dominant (PIGD) phenotype. This variant was also significantly associated with motor fluctuations and the levodopa equivalent dose (LED). G2385R variant carriers had higher REM sleep behavior disorder (RBD) screening questionnaire (RBDSQ) score and more RBD symptoms compared with non-carriers. We concluded that the G2385R variant could be a risk factor for the PIGD phenotype, motor fluctuations, LED values and RBD symptoms.

Keywords Parkinson’s disease      LRRK2      G2385R      Motor symptoms      Non-motor symptoms     
Corresponding Authors: Liu Jun,Chen Sheng-Di   
About author:

These authors equally contribute this work

Issue Date: 09 January 2016
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Sun Qian
Wang Tian
Jiang Tian-Fang
Huang Pei
Li Dun-Hui
Wang Ying
Xiao Qin
Liu Jun
Chen Sheng-Di
Cite this article:   
Sun Qian,Wang Tian,Jiang Tian-Fang, et al. Effect of a Leucine-rich Repeat Kinase 2 Variant on Motor and Non-motor Symptoms in Chinese Parkinson’s Disease Patients[J]. Aging and disease, 2016, 7(3): 230-236.
URL:  
http://www.aginganddisease.org/EN/10.14336/AD.2015.1026     OR     http://www.aginganddisease.org/EN/Y2016/V7/I3/230
Whole group
(n = 301)
LRRK2 G2385R
carriers (n = 76)
LRRK2 G2385R
non-carriers (n = 225)
P value
Age (years)62.68 ± 8.3962.16 ± 8.0062.85 ± 8.530.533
Age at onset (years)56.68 ± 8.8955.57 ± 8.7857.05 ± 8.920.208
Sex, Male, n (%)162 (53.82)37 (48.68)125 (55.56)0.299
Education (years)10.23 ± 4.6110.42 ± 4.5510.16 ± 4.630.689
Disease duration (years)5.94 ± 3.746.57 ± 4.215.73 ± 3.550.177
Hoehn & Yahr stage2.09 ± 0.812.15 ± 0.832.08 ± 0.810.427
UPDRS-I score1.73 ± 1.691.92 ± 1.981.67 ± 1.580.301
UPDRS-II score11.28 ± 4.7211.16 ± 5.7111.32 ± 4.350.992
UPDRS-III score26.03 ± 12.5124.55 ± 12.0826.52 ± 12.640.277
Tremor scores6.02 ± 3.855.24 ± 3.536.29 ± 3.920.033*
PIGD scores4.28 ± 2.624.88 ± 3.024.08 ± 2.440.014*
TD phenotype, n (%)169 (56.10)29 (38.20)140 (62.20)<0.001*
PIGD phenotype, n (%)112 (37.20)43 (56.60)69 (30.70)<0.001*
Intermediate, n (%)20 (6.60)4 (5.30)16 (7.10)0.498
Motor fluctuations, n (%)77 (25.58)27 (35.53)50 (22.22)0.016*
Dyskinesias, n (%)12 (3.99)4 (5.26)8 (3.56)0.511
LED (mg)489.41 ± 299.70553.67 ± 329.84467.71 ± 286.340.016*
Table 1  Comparison of the demographic and motor characteristics of LRRK2 G2385R variant carrier and non- carrier PD patients
Whole group
(n = 301)
LRRK2 G2385R carriers (n = 76)LRRK2 G2385R non-carriers (n = 225)P value
NMSQuest score6.17 ± 3.586.62 ± 3.566.01 ± 3.580.143
SCOPA-AUT score11.29 ± 6.7711.88 ± 7.1211.09 ± 6.650.220
MMSE score27.17 ± 2.8727.78 ± 2.6826.96 ± 2.920.034*
HAMD-17 score5.49 ± 4.626.07 ± 5.055.30 ± 4.460.263
RBDSQ score4.16 ± 3.025.00 ± 3.213.87 ± 2.910.003*
SS-16 score6.83 ± 3.156.83 ± 2.976.84 ± 3.220.796
cpRBD, n (%)98 (32.56)34 (44.74)64 (28.44)0.006*
Depression, n (%)85 (28.24)27 (35.53)58 (25.78)0.103
Cognitive impairment, n (%)15 (4.98)1 (1.32)14 (6.22)0.089
Hyposmia, n (%)222 (76.82)59 (77.63)163 (76.53)0.767
Constipation, n (%)156 (51.83)44 (57.89)112 (49.78)0.161
Table 2  Comparison of non-motor symptoms in LRRK2 G2385R variant carrier and non-carrier PD patients
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