中风与神经疾病杂志2026，Vol.43Issue(5)：392-398,7.DOI:10.19845/j.cnki.zfysjjbzz.2026.0067
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
Clinical features of non-motor symptoms in patients with Parkinson disease carrying LRRK2 G2385R mutation
摘要
Abstract
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.关键词
帕金森病/LRRK2基因G2385R突变/非运动症状/弹性网络Key words
Parkinson disease/LRRK2 G2385R/Non-motor symptoms/Elastic Net分类
医药卫生引用本文复制引用
刘婧玥,刘疏影,许保磊,冯焕焕,许二赫..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[J].中风与神经疾病杂志,2026,43(5):392-398,7.基金项目
国家重点研发计划(2021YFC2501200) （2021YFC2501200）
首都医科大学宣武医院院级课题-临床研究项目(临床研究类,LCYJ202515) （临床研究类,LCYJ202515）
