摘要
目的:探讨早发型阿尔茨海默病的临床特点以提高对该病的认识及诊治水平。方法:回顾性分析经脑脊液检测阿尔茨海默病生物标志物确诊的18例早发型阿尔茨海默病患者的临床表现、神经心理、基因全外显子测序、动态脑电图及结构磁共振等检查资料。结果:18例早发型阿尔茨海默病患者平均发病年龄55.4岁,平均病程5.6年,男性6例,女性12例,17例以记忆力下降为首发症状,9例有痴呆家族史。MMSE平均分为14.3分,中重度痴呆患者12例。18例患者的脑脊液检查均表现为Aβ42降低,Aβ42/Aβ40比值降低,磷酸化Tau蛋白(181)或总Tau蛋白升高。13例患者完成基因全外显子测序,发现3例PSEN1基因突变,4例SORL1基因突变,1例ABCD7基因突变,1例A2M基因突变;18例患者的APOE基因ε2、ε3、ε4基因型携带频率为1/36、27/36、9/36。11例完成动态脑电图检测,均为异常脑电图。影像学表现为:8例患者海马萎缩不明显或相对较轻。结论:早发型阿尔茨海默病发病时间较早,起病隐匿,但进展快,就诊时往往已经是中重度痴呆,主要以记忆力下降为首发症状,多有痴呆家族史,脑电图多有癫痫样放电,阿尔茨海默病致病基因或者高风险基因携带率高,部分早发型阿尔茨海默病海马萎缩较轻。
Objective:To explore the clinical characteristics of early on-set Alzheimer's disease(AD),improving the understanding of the diagnosis and treatment of the disease.Methods:This was a case-retrospective study on the data of clinical manifestations,neuropsychology,dynamic EEG and structural MRI of 18 early on-set AD patients who were proved with cerebral spinal fluid AD biomarkers.Results:The average age of 18 patients(6 males,12 females)with AD was 55.4 years old,and the average course of the disease was 5.6 years.17 patients suffered memory loss as initiate symptom,and 9 patients had family histories of dementia.The average score of MMSE was 14.3,and there existed 12 patients with moderate and severe dementia.Among 13 patients who accomplished gene whole-exon sequencing,we found 3 cases with PSEN1 mutations,4 cases with SORL1 mutations,1 case with ABCD7.At the same time,the carrying frequency of APOE geneε2,ε3,ε4 in 18 patients was 1/36,27/36 and 9/36,respectively.All 13 cases who accepted dynamic EEG testing showed abnormal EEGs with epileptiform discharge.The hippocampus atrophy of 8 patients was not significant.Conclusion:The clinical characteristics of the early on-set AD were hidden onset but developed fast.At the time of treatment,it has often been developed into severe dementia,with decline memory as initiate symptom and most patients have family history of dementia.Epilepsy discharge of EGG were detected more commonly in these patients,whose carrying rates of AD causing genes and AD risk genes were also higher than normal ones.And some cases had less hippocampus atrophy.
作者
许春燕
邱国真
郭启雯
吴凯钰
陈淳淳
黎明坤
孟雪娅
朱飞奇
XU Chun-yan;QIU Guo-zhen;GUO Qi-wen;WU Kai-yu;CHEN Chun-chun;LI Ming-kun;MENG Xue-ya;ZHU Fei-qi(Cognitive Impairment Ward of Neurology Department,The Hospital of Luohu District,Shenzhen,Guangdong 518001,China)
出处
《阿尔茨海默病及相关病杂志》
2021年第2期110-115,共6页
Chinese Journal of Alzheimer's Disease and Related Disorders
基金
深圳市医疗卫生三名工程项目“瑞典卡罗琳斯卡医学院NVS系Bengt Winblad教授阿尔茨海默病团队”(SZSM201801014)
深圳市科创委重点项目“AD前期及患者健康管理大数据构建及其预测预警模型研究”(JCYJ20200109143431341)资助。
关键词
早发型阿尔茨海默病
基因检测
脑电图
结构磁共振
Early onset Alzheimer's disease
Gene Detection
Electroencephalogram
Structural MRI
作者简介
许春燕,E-mail:493138179@qq.com;通讯作者:朱飞奇,E-mail:zfqzsu2004@aliyun.com。
