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.
Highlights
The G2385R variant of the leucine-rich repeat kinase 2 (LRRK2) is strongly associated with Parkinson’s disease (PD) in Asian populations
We explored the interplay between clinical features and the LRRK2 G2385R variant genotype in a cohort of Chinese PD patients to determine whether the LRRK2 G2385R variant influences the development of motor and non-motor phenotypes in this population of PD patients
We genotyped a total of 1031 PD patients (603 males and 428 females) and identified 117 subjects that carried the LRRK2 G2385R variant (11.3% of total; 61 males and 56 females)
Summary
The G2385R variant of the leucine-rich repeat kinase 2 (LRRK2) is strongly associated with Parkinson’s disease (PD) in Asian populations 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. Alcalay and colleagues [5] reported that the LRRK2 G2019S mutation was associated with the postural instability and gait dysfunction dominant (PIGD) phenotype rather than the tremor dominant (TD) phenotype in early onset PD based on the Unified Parkinson’s Disease Rating Scale (UPDRS) Another large study [4] observed that tremor was the most common motor phenotype among. We explored the interplay between clinical features and the LRRK2 G2385R variant genotype in a cohort of Chinese PD patients to determine whether the LRRK2 G2385R variant influences the development of motor and non-motor phenotypes in this population of PD patients
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