Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Department of Neurology and Health Science Research, Mayo Clinic, Rochester, Minnesota, USA.
Mov Disord. 2017 Oct;32(10):1439-1446. doi: 10.1002/mds.27125. Epub 2017 Aug 26.
The purpose of this study was to examine the discrepancies between the clinical diagnosis of parkinsonism and neuropathological findings in a population-based cohort with parkinsonian disorders.
The specific clinical diagnosis of parkinsonism is challenging, and definite confirmation requires neuropathological evaluation. Currently, autopsies are seldom performed, and most brain autopsies represent atypical or diagnostically unresolved cases.
We used a defined population-based incidence cohort with clinical parkinsonism (n = 669) from the Rochester Epidemiology Project in Olmsted County, Minnesota, 1991-2010. We reviewed reports of all patients who underwent neuropathologic examination at autopsy (n = 60; 9%) and applied consensus pathologic guidelines for neurodegenerative disease diagnosis.
Among the 60 patients examined pathologically, the median time from the last recorded clinical diagnosis to death was 7 years (range from 2 to 17 years). Clinical-pathological concordance was found in 52 cases (86.7%), whereas 8 (13.3%) had a clinical-pathological discrepancy. Four patients with a clinical diagnosis of idiopathic Parkinson's disease had no pathological evidence of Lewy bodies or α-synucleinopathy; of these, pathological diagnoses were Alzheimer's disease (2 cases), progressive supranuclear palsy (1 case), and vascular parkinsonism (1 case). Two patients with clinical diagnoses of "dementia with Lewy bodies" and one patient with an "unspecified parkinsonism" had a pathological diagnosis of Alzheimer's disease without concomitant α-synuclein lesions. One patient with clinically diagnosed "progressive supranuclear palsy" had indeterminate pathological findings without α-synuclein or Aβ- or tau-immunoreactive lesions at autopsy.
Overall, the clinical diagnoses of parkinsonian subtypes had good concordance with pathological confirmation (86.7%). However, clinical-pathological discrepancies were documented in 13.3%. © 2017 International Parkinson and Movement Disorder Society.
本研究旨在探讨帕金森病患者人群中,临床帕金森诊断与神经病理学发现之间的差异。
帕金森病的具体临床诊断具有挑战性,明确诊断需要神经病理学评估。目前很少进行尸检,大多数脑尸检代表非典型或诊断未解决的病例。
我们使用明尼苏达州罗切斯特流行病学项目(Rochester Epidemiology Project)的一个定义明确的基于人群的帕金森病发病队列(1991-2010 年),其中包括 669 例临床帕金森病患者。我们回顾了所有在尸检时接受神经病理学检查的患者报告(n=60;9%),并应用了神经退行性疾病诊断的共识病理指南。
在 60 例经病理检查的患者中,从最后一次记录的临床诊断到死亡的中位时间为 7 年(范围为 2 至 17 年)。在 52 例(86.7%)中发现了临床病理一致性,而 8 例(13.3%)存在临床病理差异。4 例临床诊断为特发性帕金森病的患者没有路易体或 α-突触核蛋白病的病理学证据;其中,病理诊断为阿尔茨海默病(2 例)、进行性核上性麻痹(1 例)和血管性帕金森病(1 例)。2 例临床诊断为“路易体痴呆”和 1 例临床诊断为“未特指的帕金森病”的患者,病理诊断为阿尔茨海默病,没有伴随的 α-突触核蛋白病变。1 例临床诊断为“进行性核上性麻痹”的患者尸检时没有α-突触核蛋白或 Aβ-或 tau-免疫反应性病变的不确定病理发现。
总体而言,帕金森病亚型的临床诊断与病理证实具有良好的一致性(86.7%)。然而,仍有 13.3%的病例存在临床病理差异。