di Biase Lazzaro, Pecoraro Pasquale Maria, Di Lazzaro Vincenzo
Research Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.
Operative Research Unit of Neurology, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.
Ann Neurol. 2025 Jun;97(6):1110-1121. doi: 10.1002/ana.27190. Epub 2025 Jan 27.
Despite diagnostic criteria refinements, Parkinson's disease (PD) clinical diagnosis still suffers from a not satisfying accuracy, with the post-mortem examination as the gold standard for diagnosis. Seminal clinicopathological series highlighted that a relevant number of patients alive-diagnosed with idiopathic PD have an alternative post-mortem diagnosis. We evaluated the diagnostic accuracy of PD comparing the in-vivo clinical diagnosis with the post-mortem diagnosis performed through the pathological examination in 2 groups.
In this retrospective case-control study, patients and healthy subjects who consented to the post-mortem pathological diagnosis at the UK Brain Bank were consecutively enrolled from the UK Brain Bank. Medical records were reviewed to classify participants and performance metrics were further calculated using neuropathological diagnosis as the gold standard.
Four thousand five hundred seventy one subjects were eligible for the study. The clinical diagnosis group was: 1,048 Parkinson's patients and 1,242 healthy subjects. Pathology diagnosis group were: 996 Parkinson's patients and 1,288 subjects with no post-mortem abnormality. For the group of clinical diagnosis, PD diagnosis showed: sensitivity of 99%, specificity of 86%, accuracy of 90.96%, F1-Score 0.89, and a receiver operating characteristics area under the curve (ROC AUC) 0.925 (SE ± 0.006) [95% confidence interval [CI]: 0.913, 0.937], 𝑝<0.001. In this group, the most frequent pathology diagnosis among clinically misdiagnosed PD (false positive) patients was dementia with Lewy bodies (19.4%). Conversely, the most frequent clinical diagnosis among PD missed clinical diagnosis (false negative) patients was Alzheimer's disease (18.5%).
Our findings confirm a still significant diagnostic error and emphasize the need for more fine and homogeneous criteria to classify idiopathic Parkinson's patients correctly. ANN NEUROL 2025;97:1110-1121.
尽管诊断标准不断完善，但帕金森病（PD）的临床诊断准确性仍不尽人意，尸检是诊断的金标准。开创性的临床病理系列研究表明，相当数量生前被诊断为特发性帕金森病的患者尸检后有其他诊断结果。我们通过比较两组患者的活体临床诊断与尸检病理诊断，评估了帕金森病的诊断准确性。
在这项回顾性病例对照研究中，从英国脑库连续纳入同意进行尸检病理诊断的患者和健康受试者。查阅病历以对参与者进行分类，并以神经病理学诊断为金标准进一步计算性能指标。
4571名受试者符合研究条件。临床诊断组包括：1048例帕金森病患者和1242名健康受试者。病理诊断组包括：996例帕金森病患者和1288例尸检无异常的受试者。对于临床诊断组，帕金森病诊断显示：敏感性为99%，特异性为86%，准确性为90.96%，F1分数为0.89，受试者工作特征曲线下面积（ROC AUC）为0.925（标准误±0.006）[95%置信区间[CI]：0.913，0.937]，p<0.001。在该组中，临床误诊为帕金森病（假阳性）的患者中最常见的病理诊断是路易体痴呆（19.4%）。相反，帕金森病漏诊（假阴性）患者中最常见的临床诊断是阿尔茨海默病（18.5%）。
我们的研究结果证实诊断误差仍然很大，并强调需要更精细和统一的标准来正确分类特发性帕金森病患者。《神经病学年鉴》2025年；97：1110 - 1121。
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