伴有MAPT基因突变的额颞叶痴呆家系1例  

A Family with frontotemporal dementia due to MAPT gene mutation

作　　者：陈淳淳 朱飞奇 CHEN Chun-chun;ZHU Fei-qi(Cognitive Impairment Ward of Neurology Department􁽋The Hospital of Luohu District,Shenzhen,Guangdong 518000,China)

机构地区：[1]深圳市罗湖区人民医院神经内科老年性认知障碍病房,广东深圳518000􁽈

出　　处：《阿尔茨海默病及相关病杂志》2021年第4期306-309,共4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(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)。

摘　　要：目的:报道1例经基因全外显子测序诊断的伴有MAPT基因突变的额颞叶痴呆家系。方法:收集1例早发型痴呆患者的痴呆家族史、神经心理学评估、神经系统查体、头颅MRI和全外显子测序检测。结果:先证者为58岁的男性患者,其父亲和大姐均于60多岁死于老年性痴呆。该患者56岁发病,主要表现为性格脾气改变、记忆力下降、行为鲁莽、缺乏同情、重复动作、口欲亢进,无肢体运动症状,病情逐渐进展,经多奈哌齐治疗后症状加重。头颅MRI提示双侧额颞叶萎缩,右侧明显。基因全外显子测序发现MAPT基因9号外显子c.902C>T杂合突变(p.P301L)。结论:该家系为伴有MAPT基因突变的额颞叶痴呆家系。Objective:To report a family with frontotemporal dementia(FTD)due to microtubule-associated protein tau(MAPT)gene mutation diagnosed by whole exon sequencing.Methods:The family history,neuropsychological assessment,neurological examination,radiological,and genetic findings were summarized.Results:The proband is a 58-year-old male,whose father and elder sister both died due to dementia at the age of over 60.He developed the age of 56 and presented with temper change,memory loss,reckless behavior,lack of compassion,repetitive movements and overeating,without body movement symptoms.The symptoms progressed gradually and was worsened after the treatment of donepezil.Brain MRI showed atrophy involving the bi—lateral frontal and temporal lobes,specially on the right side.By whole exon sequencing.the proband was found with the c.902 C>T mutation in exon 9 of the MAPT gene,at position 301 resulting amino acid proline(P)instead of leucine(L).Conclusion:This family is diagnosed as frontotemporal dementia due to MAPT gene mutation.

关 键 词：额颞叶痴呆 家族性 MAPT基因 

分 类 号：R741.4􀈼[医药卫生—神经病学与精神病学]