摘要
目的:阿尔茨海默病(AD)是一种神经变性疾病,近年来分拣蛋白相关受体基因(SORL1)作为其风险基因越来越得到重视,现将1例伴有SORL1基因突变的早发型阿尔茨海默病(EOAD)进行报道。方法:收集1例伴有SORL1基因突变的AD患者临床资料,包括病史特点、神经系统查体、神经心理学检查、常规检验、MRI、PET-CT及基因检测,并复习相关文献。结果:该患者49岁起病,以记忆力减退为主,之后计算力等各项认知功能持续性下降,伴肌张力增高、运动迟缓,缺乏联带运动等锥体外系症状,日常生活不能自理;头颅MRI显示脑萎缩,以颞叶、海马萎缩为著;基因检测显示SORL1基因43号外显子c.5744A>G杂合突变(p.Y1915C)。结论:本患者发病年龄,临床表现,影像和脑脊液异常,存在SORL1基因突变,诊断符合SORL1基因突变的EOAD,该病例锥体外系症状有助于丰富SORL1突变相关的EOAD临床特征,对临床诊疗工作具有提示作用。
Objective:Alzheimer's disease(AD)is a neurodegenerative disease.In recent years,the sortilin-related receptor 1(SORL1)has received more and more attention as a risk gene of Alzheimer's disease.One case of early-onset Alzheimer's disease(EOAD)with SORL1 gene mutation is reported.Methods:Clinical data of an AD patient suffered with the mutation of SORL1 were collected,including information on the patient's medical history,neurological examination,neuropsychological examination,routine tests,MRI,PET-CT,and genetic testing.The relevant literature was reviewed.Results:A 55-year-old female with memory loss as the main cause in the early stage,followed by a persistent decline in various cognitive functions such as calculation,accompanied by extrapyramidal symptoms such as increased muscle tone,bradykinesia,and synkinesia.She was unable to take care of herself in the daily life.Brain MRI showed cerebral atrophy,especially on the temporal lobe and hippocampus.By genetic testing,the patient was found with the c.5744A>G mutation in exon 43 of the SORL1 gene,at position 1915 resulting amino Y instead of C.Conclusion:Clinical signs,imaging,cerebrospinal fluid abnormalities,and the SORL1 gene mutation all support the diagnosis of EOAD.In this example,extrapyramidal symptoms contribute to the enrichment of SORL1 mutationassociated EOAD clinical characteristics,which is indicative for clinical diagnosis and treatment.
作者
吴霜
袁平
陈秀
蔡亮
欧敏丽
吕志宇
Shuang WU;Ping YUAN;Xiu CHEN;Liang CAI;Minli OU;Zhiyu LV(Department of neurology,the Affiliated Hospital of Southwest Medical University,Luzhou 646000,China;Department of Nuclear Medicine,Affiliated Hospital of Southwest Medical University,Luzhou 646000,China)
出处
《阿尔茨海默病及相关病杂志》
2023年第3期236-240,共5页
Chinese Journal of Alzheimer's Disease and Related Disorders
基金
泸州市人民政府-西南医科大学科技战略合作(2019LZXNYDJ43)。
