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.
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.
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)
6.17 ± 3.58
6.62 ± 3.56
6.01 ± 3.58
11.29 ± 6.77
11.88 ± 7.12
11.09 ± 6.65
27.17 ± 2.87
27.78 ± 2.68
26.96 ± 2.92
5.49 ± 4.62
6.07 ± 5.05
5.30 ± 4.46
4.16 ± 3.02
5.00 ± 3.21
3.87 ± 2.91
6.83 ± 3.15
6.83 ± 2.97
6.84 ± 3.22
cpRBD, n (%)
Depression, n (%)
Cognitive impairment, n (%)
Hyposmia, n (%)
Constipation, n (%)
Table 2 Comparison of non-motor symptoms in LRRK2 G2385R variant carrier and non-carrier PD patients
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