LRRK2 G2385R和 GBA L444P双突变对帕金森疾病临床表型的影响  

Effects of both GBA L444P and LRRK2 G2385R Mutations in Parkinson’s Disease on the Clinical Phenotype

作　　者：任静静 王珊珊[1] 郭战萍[1] REN Jingjing;WANG Shanshan;GUO Zhanping(Xinxiang City Central Hospital,He’nan Province 453700)

机构地区：[1]河南省新乡市中心医院,453700

出　　处：《医学理论与实践》2022年第14期2353-2355,共3页The Journal of Medical Theory and Practice

摘　　要：目的:探究帕金森病(PD)患者中携带LRRK2 G2385R和GBA L444P双基因突变的临床表型。方法:选取我院416例PD患者,根据上述2个基因检测结果分为4组:仅携带LRRK2 G2385R突变的LRRK2-PD组、仅携带GBA L444P突变的GBA-PD组、携带LRRK2 G2385R和GBA L444P双基因突变的LRRK2-GBA-PD组和未携带LRRK2 G2385R或GBA L444P突变的MNPD组。同时收集研究对象的性别、首发年龄、首发症状为震颤、Hoehn-Yahr分级、睡眠障碍、痴呆等临床资料,研究携带LRRK2 G2385R和GBA L444P双基因突变PD患者的临床特征。结果:研究人群中LRRK2 G2385R、GBA L444P基因突变阳性率分别为7.69%、1.92%,即携带LRRK2 G2385R又GBA L444P基因双突变率为0.96%;4组实验对象中性别、首发症状为震颤的概率无显著差异(P>0.05)。与GBA-PD组、LRRK2-GBA-PD组和MNPD组对比发现LRRK2-PD组的发病年龄较晚且疾病分级较重,并具有更高的睡眠障碍和痴呆率(P<0.05),但在LRRK2-GBA-PD组与GBA-PD组和MNPD组对比却无显著差异(P>0.05)。结论:仅携带LRRK2 G2385R突变PD患者的首发年龄晚、病程进展快、有较高的睡眠障碍和痴呆率。GBA L444P基因突变对携带LRRK2 G2385R突变的PD患者有一定的保护作用。Objective:To identify the clinical phenotype of Parkinson’s disease(PD)patients carrying both LRRK2 G2385R and GBA L444P.Methods:A total of 416 PD patients were enrolled in our hospital.The PD patients were divided into 4 groups by genetic test results:GBA-PD,LRRK2-PD,LRRK2-GBA-PD and MNPD group.The clinical data of the patients including gender,age of onset,tremor at first sign,Hoehn-Yahr stage,sleep disturbance,dementia were collected and estimate characteristic features of PD for the double mutation carriers.Results:The positive rates of LRRK2 G2385R and GBA L444P gene mutation in PD patients were 7.69%and 1.92%,respectively.The positive rates of the double mutation carriers were 0.96%.There are no significant differences in four groups about gender,tremor at first sign(P>0.05).Compared with GBA-PD group,LRRK2-GBA-PD group and MNPD group,LRRK2-PD group had a later age of onest,higher Hoehn-Yahr stage,higher incidence of sleep disorders and dementia(P<0.05).But there was no significant difference between LRRK2-GBA-PD group and GBA-PD group and MNPD group(P>0.05).Conclusion:PD patients with only carrying LRRK2 G2385R had higher rates of sleep disturbance and dementia,a later age at PD onset,rapid disease progression.This may imply to a possible protective effect of GBA L444P among LRRK2 G2385R carriers.

关 键 词：LRRK2 GBA 帕金森病 

分 类 号：R742.5[医药卫生—神经病学与精神病学]