Witzel Simon, Micca Veronika, Müller Hans P, Huss André, Bachhuber Franziska, Dorst Johannes, Lulé Dorothée E, Tumani Hayrettin, Kassubek Jan, Ludolph Albert C
Department of Neurology, Ulm University, Ulm, Germany
Department of Neurology, Ulm University, Ulm, Germany.
J Neurol Neurosurg Psychiatry. 2024 Jul 15;95(8):737-747. doi: 10.1136/jnnp-2023-333023.
Validation of the 2020 consensus criteria for primary lateral sclerosis (PLS) is essential for their use in clinical practice and future trials.
In a large cohort of patients diagnosed with PLS by expert opinion prior to the new criteria with detailed clinical baseline evaluation (n=107) and longitudinal follow-up (n=63), we applied the new diagnostic criteria and analysed the clinical phenotype, electromyography (EMG), diagnostic accuracy and prognosis, adding neurofilaments and MRI as potential biomarkers.
The criteria for definite PLS were met by 28% and those for probable PLS by 19%, whereas 53% did not meet the full criteria at baseline, mainly due to the time, EMG and region criteria. Patients not meeting the criteria had less generalised upper motor neuron involvement but were otherwise similar in demographic and clinical characteristics. All patients with definite and probable PLS maintained PLS diagnosis during follow-up, while four patients not meeting the criteria developed clinical lower motor neuron involvement. Definite PLS cases showed improved survival compared with probable PLS and patients who did not meet the criteria. Despite a clinical PLS phenotype, fibrillation potentials/positive sharp waves and fasciculations in one or more muscles were a frequent EMG finding, with the extent and prognostic significance depending on disease duration. Serum neurofilament light and a multiparametric MRI fibre integrity Z-score correlated with clinical parameters and were identified as potential biomarkers.
Validation of the 2020 PLS consensus criteria revealed high diagnostic certainty and prognostic significance, supporting their value for research and clinical practice.
验证2020年原发性侧索硬化症（PLS）的共识标准对于其在临床实践和未来试验中的应用至关重要。
在一大群在新标准出台之前经专家意见诊断为PLS的患者中，进行了详细的临床基线评估（n = 107）和纵向随访（n = 63），我们应用了新的诊断标准，并分析了临床表型、肌电图（EMG）、诊断准确性和预后，同时增加了神经丝和MRI作为潜在的生物标志物。
28%的患者符合确诊PLS的标准，19%的患者符合可能PLS的标准，而53%的患者在基线时未达到全部标准，主要是由于时间、EMG和区域标准。未达标准的患者上运动神经元受累程度较轻，但在人口统计学和临床特征方面其他方面相似。所有确诊和可能的PLS患者在随访期间均维持PLS诊断，而4例未达标准的患者出现了临床下运动神经元受累。确诊的PLS病例与可能的PLS患者及未达标准的患者相比，生存率有所提高。尽管有临床PLS表型，但在一块或多块肌肉中出现纤颤电位/正锐波和肌束震颤是常见的EMG表现，其程度和预后意义取决于疾病持续时间。血清神经丝轻链和多参数MRI纤维完整性Z评分与临床参数相关，并被确定为潜在的生物标志物。
对2020年PLS共识标准的验证显示出较高的诊断确定性和预后意义，支持了它们在研究和临床实践中的价值。
