LRRK2基因G2385R突变携带者帕金森病患者的非运动症状临床特征分析OA

Objective To compare the differences in non-motor symptoms between the patients with Parkinson dis-ease(PD)carrying LRRK2 G2385R mutation and those without such mutation,and to identify key clinical features.Meth-ods The patients who were consecutively admitted to Xuanwu Hospital,Capital Medical University,from January to No-vember 2025 and were diagnosed with PD were enrolled.According to the results of genetic testing,the patients were di-vided into carrier group and non-carrier group,and other known pathogenic mutations were excluded.Demographic data and the results of multiple clinical scales were collected,including UPDRS-Ⅲ,NMSS,MMSE,MoCA,HAMA,HAMD,RBDQ-HK,and olfactory questionnaire.Traditional statistical methods and Elastic Net regression were used for comparison be-tween the two groups.Results A total of 292 PD patients were enrolled,among whom there were 27 carriers and 265 non-carriers,and there were no significant differences between the two groups in sex,age of onset,disease duration,and motor symptoms(all P>0.05).The univariate analysis showed that the carrier group had a significantly lower RBDQ-HK score than the non-carrier group(P<0.05).The Elastic Net analysis further revealed that RBD symptoms,olfactory function,and overall non-motor symptom burden were negatively correlated with the carrier status,while anxiety score was positively corre-lated with the carrier status,suggesting a relatively milder burden of non-motor symptoms in carriers.Conclusion There are no significant differences in motor symptoms between LRRK2 G2385R carriers and non-carriers,but LRRK2 G2385R carriers have a distinctive non-motor symptom phenotype,especially milder RBD symptoms.The multivariate analysis sug-gests that the carrier status may be associated with a lower burden of non-motor symptoms,which may help to deepen the un-derstanding of clinical heterogeneity in genetic subtypes of PD and provide a reference for individualized assessment.