Clinical Symptoms And Polymorphism Of LRRK2 Gene In Sporadic Early-onset Parkinson's Disease In Fujian Province

?Background and Objective?Parkinson's disease(PD)is the second most common neurodegenerative disease after Alzheimer's disease.At present,the potential mechanism of Parkinson's disease is not clear,but genetic factors are one of the risk factors of Parkinson's disease.Leucine-rich repeat kinase 2(LRRK2)is considered as the most common autosomal dominant genetic pathogenic gene and plays an important role in both familial Parkinson's disease and sporadic Parkinson's disease.LRRK2 is more common in late-onset Parkinson's disease,with an average age of 59 years.However,our team found that LRRK2 mutation rate was significantly higher than previous studies,where the gene polymorphisms of sporadic early-onset Parkinson's disease in the Fujian area.In this study,we conducted to further study the LRRK2 gene polymorphisms in early-onset Parkinson's disease in Fujian area,and discussed the relationship between LRRK2 gene polymorphism and demographic characteristics,clinical characteristics.?Methods?1.82 cases with early-onset Parkinson's disease(EOPD)diagnosed by the outpatient department of neurology,the First Affiliated Hospital of Fujian Medical University,from June 2018 to November 2019 were collected for inclusion in the standard.And complete the collection of demographic characteristics,clinical characteristics.2.Peripheral venous blood of subjects was collected,and the second-generation sequencing of PD gene was conducted by Beijing Jinzhun Gene Technology Co.,Ltd-Jinzhun Medical Laboratory.3.Summarize and analyze LRRK2 gene results.4.Compare and the clinical baseline data and genotype test results,and use t test and chi-square to analyze the baseline data,and summarize the genotype-clinical phenotype of LRRK2.?Result?(1)Genetic results: among the 82 EOPD patients,a total of 23 cases of LRKR2 gene mutation were found,the mutation rate was 26.44%.,9 cases of R1628 P,the mutation rate was 10.34%,7 cases of G2385 R,the mutation rate was 8.05%,2 cases of P755 L,the mutation rate was 2.30%,R10679,R1677 S,1786F,N2479 S,P1446L were all 1 case,the mutation rate was1.15%.N2479 S and P1446 L were first discovered while no G2019 S mutation was found.2.Demographic characteristics and clinical research results:(1)LRRK2 mutation group and control group: the onset age of statistically difference between two groups(p = 0.0031).There was a significant difference in the LRRK2 mutation rate between the age of onset > 50 years old and the age of onset ? 50 years old(p = 0.001).There was no significant difference in demographic characteristics such as gender,age,course of the disease and motor symptoms,non-motor symptoms,movement complications and correlation scale evaluation(p > 0.05).(2)LRRK2 R1628 P mutation group and control group: There was a significant difference in the LRRK2 R1628 P mutation rate between the age of onset > 50 years old and the age of onse ? 50 years old(p = 0.007).And the difference in UPDRS IV score between two ground was statistically significant(p=0.019).LRRK2 G2385 R mutation group and control group:The difference in PSQI score between LRRk2 C2385 R mutation group and control group was statistically significant(p=0.001).?Conclusion?(1)In the sporadic EOPD in Fujian,China,the most common mutation of LRRK2 gene were R1628 P and G2385 R.(2)The onset of age of LRRK2 gene mutation is later,and the older the age,the higher the mutation rate.(3)The clinical phenotype was associated with mutation of different locus.Patients with LRRK2 R1628 P gene mutation have a later onset age,and the older they are,the higher the mutation rate,and are less likely to have movement complications in treatment,while patients with LRRK2 G2385 R gene mutation are more likely to have sleep disorders.