Objective: Our study aimed to compare motor and non-motor symptoms, imaging features and molecular markers of patients with Parkinson’s disease (PD) who are carriers of the leucine-rich repeat kinase 2 (LRRK2) gene variants with patients who are noncarriers.

Background: LRRK2 is commonly implicated in both familial and sporadic PD. The polymorphic variants G2385R and R1628P have been associated with a significantly increased risk of developing PD in various Asian populations. Different variants may have different phenotypes and it is important to understand the phenotype of LRRK2 variants.

Methods: Two hundred eighty-seven patients with PD were enrolled in our study. Demographic information was collected. Unified Parkinson’s Disease Rating Scale (UPDRS) and Hoehn and Yahr (H-Y) stage scale were also performed. The Mini-Mental State Examination(MMSE), Montreal Cognitive Assessment (MoCA), Hamilton Anxiety Scale(HAMA), Hamilton Rating Scale for Depression(HRSD) and the non-motor symptoms (NMS) questionnaire were applied to evaluate non-motor symptoms. Peripheral blood samples were collected and DNA was extracted for next generation sequencing. GBA mutation carriers were excluded. Among the 287 patients, 199 underwent transcranial ultrasound examination(TCS), and 147 admitted to the hospital underwent lipid pofile, uric acid, creatinine, homocysteine, folic acid and vitamin B12 tests.

Results: LRRK2 variants carriers(n=72) and non-carriers(n=203) were similar in age at onset, gender, course of disease, education, levodopa-equivalent daily dose(LEDD), UPDRS I, II, III, IV scores, MoCA score, HAMA score, HRSD score and NMSQ score. Carriers had higher H-Y stage and lower MMSE score(H-Y stage: 2.5 (2.0,3.0) vs 2.0 (1.5,2.5), Z = -2.098, P = 0.034; MMSE score: 26 (25,28) vs 27 (25, 29), Z = -2.437, P = 0.014) and were more likely to have motor fluctuation (49.2% vs 31.0%, P = 0.011 ). There was no significant difference between the two groups in terms of TCS parameters. Laboratory markers did not differ by mutation status either.

Conclusions: In our data, PD with LRRK2 variants in Chinese Han population is similar to idiopathic PD as to motor and non-motor symptoms, TCS profiles, common biochemical and hematological indicators, but characterized by more advanced disease stage and worse cognition.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-phenotype-analysis-of-parkinsons-disease-associated-with-lrrk2-variants-in-chinese-han-population/