PSEN2基因突变所致的散发性阿尔茨海默病1例报告  

Case report of a sporadic alzheimer’s disease caused by psen2 gene mutation and literature review

作　　者：蒋倩雯[1] 汤荟冬[2] JIANG Qian-wen;TANG Hui-dong(Department of Gerontology,Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Department of Neurology,Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院老年科,上海200025 [2]上海交通大学医学院附属瑞金医院神经内科,上海200025

出　　处：《阿尔茨海默病及相关病杂志》2021年第4期302-305,共4页Chinese Journal of Alzheimer's Disease and Related Disorders

基　　金：国家自然科学基金面上项目(81971014);国家重点研发计划(2016YFC1305804)。

摘　　要：目的:阿尔茨海默病(AD)是一种以渐进性认知障碍为特征的神经变性疾病。已发现数个编码相关蛋白的基因突变与AD的发病有关,其中最常见的是:淀粉样蛋白前体(APP)、早老素1(PSEN 1)、早老素2(PSEN 2)。现对PSEN2基因突变所致的1例散发性AD进行报道,并总结其临床表现及基因学特征。方法:收集PSEN2突变所致1例AD的临床资料,对其进行认知评估、头颅MRI、脑电图、PET-CT等检查,采集外周血,提取DNA,通过外显子捕获测序发现其携带的基因突变。结果:患者,女,71岁,因"记忆减退2年,幻听、幻视2月"就诊。患者2年前出现记忆减退,以近事记忆受损为主,近2月出现幻听、幻视、妄想,发作无规律,伴有右手静止性震颤,服用舍曲林、阿立哌唑效果不佳,服用美金刚后因幻觉加重而减量。否认相关家族遗传史。体格检查:神清,反应略迟钝,时间、空间定向尚可,双侧瞳孔等大等圆,对光反射正常,眉心征(-),四肢肌张力正常,肌力5级,右手静止性震颤,双手轮替试验(-),病理征(-),共济完成可。认知功能检查量表(ACE-R):56/100;简易精神状态量表(MMSE):21/30。头颅MRI示双侧脑室体旁、基底节区、额顶叶散在腔隙灶,双侧海马萎缩,MTA 3分;PET-CT示双侧额顶颞叶代谢降低;脑电图示轻中度弥漫性异常、颞区异常。基因检测结果显示PSEN2(NM000447:c.G640T,p.V214L)突变。结论:PSEN2基因突变所致的AD在亚洲人群中较少见,发病年龄范围很广,部分患者无阳性家族史。PSEN2突变的患者临床表现除AD的主要特征外,常伴有其他症状如锥体系、锥体外系症状、定向障碍、帕金森样症状、肌阵挛等症状。本文报道的1例PSEN2基因突变的患者起病年龄较晚,以记忆力下降为首发症状,伴有明显的幻听、幻视、妄想等精神症状及锥体外系症状,基因检测显示PSEN2(NM000447:c.G640T,p.V214L)突变,进一步丰富了中国AD患者的PSEN2基因突变类型�Object:Alzheimer’s disease(AD)is a neurodegenerative disease characterized by progressive cognitive impairment.Several gene mutations encoding related proteins have been found to be associated with the pathogenesis of AD,the most common of which are amyloid precursor(APP),presenilin 1(PSEN1)and presenilin 2(PSEN2).This paper reports a case of a sporadic AD caused by PSENS2 gene mutation,and summarizes its clinical manifestations and genetic characteristics.Methods:The clinical data of a case of AD caused by PSEN2 mutation were collected.The cognitive assessment,brain MRI,EEG,PET-CT were performed.The gene mutation was detected by exon capture sequencing after collecting the peripheral blood and extracting DNA.Results:A 71-year-old female consulted with manifestations of memory decline for 2 years and auditory visual hallucination for 2 months.The patient presented memory impairment,dominant by recent event memory since 2 years.She presented auditory visual hallucination,delusion of irregular attack since 2 months,accompanied by right hand static tremor.The effect of sertraline and aripiprazole was poor,and memantine was decreased because of deteriorate hallucination.The patient had no positive family history.The physical examination showed a conscious mind,slightly slow reaction,proper orientation of time and space,equal size and normal light reflex of bilateral pupils,eyebrow sign negative,normal muscle tension and strength,right hand static tremor,hand rotation test negative,pathological sign negative and no dystaxia.The score of Addenbrooke’s cognitive examination(ACE-R)was 56/100 and mini mental state examination(MMSE)was 21/30.The brain MRI showed scattered lacunar foci in bilateral paraventricular,basal ganglia and frontoparietal lobes,and bilateral hippocampal atrophy(MTA=3).The PET-CT showed decreased metabolism of bilateral fronto-parietal and temporal lobes.The EEG showed mild to moderate diffuse and temporal abnormalities.The gene test showed PSEN2 mutation(NM_00047:c.G640 T,p.V214 L).Conclusions:A

关 键 词：阿尔茨海默病 PSEN2基因突变 

分 类 号：R741[医药卫生—神经病学与精神病学]