Brownlee Wallace J, Vidal-Jordana Angela, Shatila Madiha, Strijbis Eva, Schoof Lisa, Killestein Joep, Barkhof Frederik, Bollo Luca, Rovira Alex, Sastre-Garriga Jaume, Tintore Mar, Rocca Maria A, Esposito Federica, Azzimonti Matteo, Filippi Massimo, Bodini Benedetta, Lazzarotto Andrea, Stankoff Bruno, Montalban Xavier, Toosy Ahmed T, Thompson Alan J, Ciccarelli Olga
Queen Square Multiple Sclerosis Center, Department of Neuroinflammation, UCL Institute of Neurology, London, UK.
NIHR University College London Hospitals Biomedical Research Center, London, UK.
Ann Neurol. 2025 Mar;97(3):571-582. doi: 10.1002/ana.27145. Epub 2024 Nov 28.
The 2017 McDonald criteria continued the separation of diagnostic criteria for relapsing-remitting multiple sclerosis (RRMS) and primary progressive MS (PPMS) for historical, rather than biological, reasons. We aimed to explore the feasibility of a single, unified set of diagnostic criteria when applied to patients with suspected PPMS.
We retrospectively identified patients evaluated for suspected PPMS at 5 European centers. The 2017 McDonald PPMS criteria was the gold standard against which the 2017 McDonald RRMS dissemination in space (DIS) and dissemination in time criteria were evaluated. We also investigated modified RRMS DIS criteria, including: (i) optic nerve lesions; (ii) ≥2 spinal cord lesions; and (iii) higher fulfilment of DIS criteria alone (lesions in ≥3 regions) without dissemination in time/positive cerebrospinal fluid, for a diagnosis of PPMS.
A total of 282 patients were diagnosed with PPMS using the 2017 McDonald criteria, and 40 with alternate disorders. The 2017 McDonald RRMS DIS criteria and the modified DIS criteria including the optic nerve or ≥2 spinal cord lesions performed well in PPMS diagnosis when combined with dissemination in time/positive cerebrospinal fluid (sensitivity 92.9-95.4%, specificity 95%, accuracy 93.2-95.3%). A diagnosis of PPMS based on high fulfillment of modified RRMS DIS criteria had high specificity, but low sensitivity. A diagnostic algorithm applicable to patients evaluated for suspected MS is proposed.
The 2017 McDonald RRMS criteria and modifications to DIS criteria, currently under consideration, performed well in PPMS diagnosis. Forthcoming revisions to the McDonald criteria should consider a single, unified set of diagnostic criteria for MS. ANN NEUROL 2025;97:571-582.
出于历史而非生物学原因，2017年麦克唐纳标准继续将复发缓解型多发性硬化症（RRMS）和原发进展型多发性硬化症（PPMS）的诊断标准分开。我们旨在探讨一套统一的诊断标准应用于疑似PPMS患者的可行性。
我们回顾性确定了在5个欧洲中心接受疑似PPMS评估的患者。以2017年麦克唐纳PPMS标准作为金标准，评估2017年麦克唐纳RRMS空间扩散（DIS）和时间扩散标准。我们还研究了改良的RRMS DIS标准，包括：（i）视神经病变；（ii）≥2个脊髓病变；以及（iii）仅更高程度满足DIS标准（≥3个区域有病变）但无时间扩散/脑脊液阳性，用于PPMS的诊断。
共有282例患者根据2017年麦克唐纳标准被诊断为PPMS，40例患有其他疾病。2017年麦克唐纳RRMS DIS标准以及包括视神经或≥2个脊髓病变的改良DIS标准，在与时间扩散/脑脊液阳性相结合时，在PPMS诊断中表现良好（敏感性92.9 - 95.4%，特异性95%，准确性93.2 - 95.3%）。基于高度满足改良RRMS DIS标准的PPMS诊断具有高特异性，但低敏感性。提出了一种适用于疑似MS患者评估的诊断算法。
2017年麦克唐纳RRMS标准以及目前正在考虑的对DIS标准的修改，在PPMS诊断中表现良好。麦克唐纳标准即将进行的修订应考虑一套统一的MS诊断标准。《神经病学年鉴》2025；97：571 - 582。
