以帕金森症状为主要表现的散发性早发性阿尔茨海默病(附1例报告及文献复习)  

Case Report and Follow-up Study of a Subject with Sporadic Early-onset Alzheimer’s Disease and Parkinsonism

作　　者：林华媚 刘丰韬 陈晨 LIN Hua-mei;LIU Feng-tao;CHEN Chen(Department of PET Center,Huashan Hospital,Shanghai 200235,China;Department of Neurology,Huashan Hospital,Shanghai 200040,China)

机构地区：[1]复旦大学附属华山医院PET中心,上海200235 [2]复旦大学附属华山医院神经内科,上海200040

出　　处：《中国临床神经科学》2022年第2期183-189,共7页Chinese Journal of Clinical Neurosciences

基　　金：华山医院科研启动基金(编号:2021QD024)。

摘　　要：目的探讨早发性阿尔茨海默病(EOAD)的患者的临床和影像学特征。方法报告1例以帕金森病(PD)症状起病的EOAD患者及其1年后的随访情况,并结合文献复习对EOAD的临床及影像学特征进行讨论。结果患者为54岁女性,病程2年余,起病症状为双侧起病的运动迟缓,伴有较早出现平衡障碍和跌倒等不典型PD样表现,多巴受体激动剂治疗有效,1年后出现明显的记忆减退和日常行为异常。行PET-DTBZ显示双侧尾状核及双侧壳核多巴胺囊泡转运体分布未见明显减少,VMAT2代谢正常,不支持PD诊断。进一步完善认知功能检查发现患者记忆、视空间、执行功能受损。PET-FDG显示右侧额顶颞叶FDG代谢减低,考虑为不典型AD。完善PET-PBB3及PET-AV45检查,示双侧额叶、顶叶、颞叶、后扣带回皮质β-淀粉样蛋白(Aβ)和tau蛋白异常沉积,符合AD诊断。随访12个月,患者认知损害明显加重达到痴呆程度,但运动障碍加重不明显。结论与晚发性AD比较,EOAD通常更容易伴有锥体外系症状等非典型运动障碍表现,进展更快,认知损害以记忆损害为主。侧脑室前角和颞角扩大、海马萎缩、颞叶、后扣带回和额顶叶区域的PET-FDG代谢减低是其典型影像学表现。上述区域的病理检查和PET显像中通常有Aβ及tau蛋白沉积。Aim To report the clinical and neuroimaging data of a patient with early-onset Alzheimer’s disease(EOAD),and summarize the features of EOAD.Methods A EOAD patient with parkinsonism as initial symptom and her follow-up one year later was reported,and the clinical and neuroimaging features of EOAD based on the literature reviews were summarized.Results The patient was a 54-year-old female with a disease course of more than 2 years.Her initial symptom was bilateral bradykinesia with atypical parkinsonism features like balance disturbance and early falls.The patient showed a good response to dopa receptor agonists.She developed significant memory loss and abnormal daily behaviors one year later.A PET-DTBZ scan was performed and showed no significant reduction in the distribution of dopamine vesicle transporters in the bilateral caudate nucleus and putamen,and the metabolism of VMAT2 was normal.This result did not support the diagnosis of Parkinson’s disease.Further evidence of the cognitive examination revealed that the patient’s memory,visual spacial function,and executive function were affected.A PET-FDG scan showed decreased FDG metabolism in the right frontal-parietal-temporal lobe,which conformed to atypical Alzheimer’s disease(AD).A PET-PBB3 scan and PET-AV45 scan showed abnormal deposits of amyloid-β(Aβ)and tau protein in the frontal,parietal,temporal and posterior cingulate gyrus cortex,which is in line with the diagnosis of AD.In the follow-up study 12 months later,the patient’s cognitive impairment was significantly worsened and reached the status of dementia,but the aggravation of movement disorders was not obvious.Conclusion Compared with late-onset AD,the early-onset Alzheimer’s disease is usually more likely to be accompanied by extrapyramidal symptoms and other atypical manifestations of movement disorders.The progression of EOAD is faster.The predominant cognitive impairment of EOAD is memory loss.Typical neuroimaging findings include enlargement of the anterior and temporal horns of the

关 键 词：早发性阿尔茨海默病 帕金森病症状 影像学 临床特征 

分 类 号：R749.16[医药卫生—神经病学与精神病学]