一个早老素2基因突变导致的早发家族性阿尔茨海默病家系  

Early-onset familial Alzheimer’s disease in a family with mutation of presenilin 2 gene

作　　者：李郴萍 肖学文 王俊岭[1] 沈璐[1] 焦彬[1] LI Chenping;XIAO Xuewen;WANG Junling;SHEN Lu;JIAO Bin(Department of Neurology,Xiangya Hospital,Central South University,Changsha 410008,China)

机构地区：[1]中南大学湘雅医院神经内科,长沙410008

出　　处：《中南大学学报（医学版）》2021年第2期189-194,共6页Journal of Central South University ：Medical Science

基　　金：国家自然科学基金(81701134)。

摘　　要：阿尔茨海默病(Alzheimer’s disease,AD)是一种以进行性认知功能障碍、精神行为异常和日常生活能力下降为特征的最常见的老年神经系统变性病。中南大学湘雅医院神经内科2018年收治一个AD家系,该家系共有3例患者。先证者疾病初期表现为记忆力下降,后逐渐出现精神行为异常、性格改变、癫痫发作及运动迟缓。通过全外显子组测序(whole exome sequencing,WES)技术,该家系被诊断为携带早老素2(presenilin 2,PSEN2)基因错义突变(c.715A>G p.M239V)的早发家族性阿尔茨海默病(early-onset familial Alzheimer’s disease,EOFAD)。该突变在中国汉族人群中为首次报道,扩大了PSEN2基因突变谱,丰富了与PSEN2突变相关的AD的临床表型特征。在临床工作中遇到发病年龄小、临床表型复杂的AD表现的患者时,可借助基因检测技术明确诊断,以免误诊。Alzheimer’s disease(AD)is the most common senile neurodegenerative disease characterized by progressive cognitive dysfunction,psychological and behavioral abnormalities,and impaired ability of activities of daily living.A family with a total of 3 patients were admitted to the Department of Neurology of Xiangya Hospital,Central South University in 2018.The proband showed memory decline as the presenting symptoms,and subsequently showed psychological and behavioral abnormalities,personality changes,seizures,and motor retardation.Definite diagnosis of early-onset familial AD(EOFAD)with missense mutation of presenilin 2(PSEN2)(c.715A>G p.M239V)was established by whole exome sequencing(WES)technology.We reported the mutation in Chinese Han population for the first time,which expanded the mutation spectrum of PSEN2 gene and aid to enrich the characterization of clinical phenotype in EOFAD associated to PSEN2 mutations.Patients with early onset age and complex clinical manifestations of AD can be diagnosed with the help of genetic testing to avoid misdiagnosis.

关 键 词：阿尔茨海默病 早发 家族 基因突变 

分 类 号：R749.16[医药卫生—神经病学与精神病学]