摘要
目的:报道1例阿尔茨海默病病理改变所致的皮质基底节变性(Corticobasal degeneration,CBD),探讨其临床病理特征。方法:对1例76岁男性痴呆患者的临床症状、体征、影像、脑脊液阿尔茨海默病标志物和基因检测结果进行分析。结果:该患者早期突出表现为左侧上肢不自主发抖、僵硬和失用,后期出现记忆力下降和语言能力下降,其四肢肌张力增高,左手失用;其头颅磁共振:广泛皮层脑萎缩,右侧颞顶叶明显,双侧海马萎缩相对较轻,伴双侧侧脑室前后角及侧脑室旁对称性脑白质病变;脑脊液阿尔茨海默病标志物检测Aβ_(42)166.09 pg/mL↓,Aβ_(40)5025.72pg/mL,Aβ_(42)/Aβ_(40)为0.03↓,p-Tau18137.96 pg/mL和T-Tau 284.35pg/mL,T-Tau/Aβ_(42)为1.712↑,APOE基因型为4/4型和胰岛素降解酶基因杂合突变。结论:结合患者临床症状、体征、头颅磁共振、脑脊液阿尔茨海默病标志物、APOE4/4基因型和胰岛素降解酶杂合突变检测结果,支持该患者为阿尔茨海默病病理改变所致的皮质基底节变性。
Objective:To investigate a case of corticobasal degeneration(CBD)due to Alzheimer’s disease(AD).Method:The clinical symptoms,signs,imaging,cerebrospinal fluid biomarkers of AD and gene detection results of a 76-year-old male dementia patient were analyzed.Results:In the early stage,the patient showed involuntary shaking,stiffness and apraxia of the left upper limb,and decreased memory and language ability in the later stage.The muscle tension of the limbs increased and the left hand was apraxia.Head MRI:extensive cortical brain atrophy,obvious right parietal lobe,relatively mild bilateral hippocampal atrophy,with symmetrical white matter lesions in the anterior and posterior corners of bilateral lateral ventricle and beside lateral ventricle;The AD biomarkers in cerebrospinal fluid were Aβ_(42)166.09 pg/ml↓,Aβ_(40)5025.72 pg/ml,Aβ_(42)/Aβ_(40)0.03↓,p-Tau18137.96 pg/mL and T-Tau 284.35pg/mL,and T-Tau/Aβ_(42)1.712↑;APOE genotype is 4/4 type and heterozygous mutation of insulin degrading enzyme(IDE)gene.Conclusion:Combined with the clinical symptoms,signs,head MRI,cerebrospinal fluid markers of AD,APOE4/4 genotype and heterozygous mutation of IDE,it is supported that this patient is CBD caused by pathological changes of AD.
作者
朱飞奇
许春燕
邱国真
郭启雯
孟雪娅
林燕维
陈淳淳
ZHU Fei-qi;XU Chun-yan;QIU Guo-zhen;GUO Qi-wen;MENG Xue-ya;LIN Yan-wei;CHEN Chun-chun(Department of Neurology,the third affiliated hospital of Shenzhen University Medical College,Shenzhen,Guangdong 518001,China)
出处
《阿尔茨海默病及相关病杂志》
2021年第2期121-123,共3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。
