Department of Neurology, Brain Center Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands.
Department of Medical Technology and Clinical Physics, University Medical Center Utrecht, Utrecht, The Netherlands.
Eur J Neurol. 2023 Oct;30(10):3068-3078. doi: 10.1111/ene.15954. Epub 2023 Jul 5.
The lack of reliable early biomarkers still causes substantial diagnostic delays in amyotrophic lateral sclerosis (ALS). The aim was to assess the diagnostic accuracy of a novel electrophysiological protocol in patients with suspected motor neuron disease (MND).
Consecutive patients with suspected MND were prospectively recruited at our tertiary referral centre for MND in Utrecht, The Netherlands. Procedures were performed in accordance with the Standards for Reporting of Diagnostic Accuracy. In addition to the standard diagnostic workup, an electrophysiological protocol of compound muscle action potential (CMAP) scans and nerve excitability tests was performed on patients' thenar muscles. The combined diagnostic yield of nerve excitability and CMAP scan based motor unit number estimation was compared to the Awaji and Gold Coast criteria and their added value was determined.
In all, 153 ALS or progressive muscular atrophy patients, 63 disease controls and 43 healthy controls were included. Our electrophysiological protocol had high diagnostic accuracy (area under the curve [AUC] 0.85, 95% confidence interval [95% CI] 0.80-0.90), even in muscles with undetectable axon loss (AUC 0.78, 95% CI 0.70-0.85) and in bulbar-onset patients (AUC 0.85, 95% CI 0.73-0.95). Twenty-four of 33 (73%) ALS patients who could not be diagnosed during the same visit were correctly identified, as well as 8/13 (62%) ALS patients not meeting the Gold Coast criteria and 49/59 (83%) ALS patients not meeting the Awaji criteria during this first visit.
Our practical and non-invasive electrophysiological protocol may improve early diagnosis in clinically challenging patients with suspected ALS. Routine incorporation may boost early diagnosis, enhance patient selection and generate baseline measures for clinical trials.
在肌萎缩侧索硬化症（ALS）中，缺乏可靠的早期生物标志物仍导致大量诊断延迟。本研究旨在评估新型电生理方案在疑似运动神经元疾病（MND）患者中的诊断准确性。
连续招募疑似 MND 的患者在荷兰乌得勒支的 MND 三级转诊中心进行前瞻性研究。根据诊断准确性报告标准进行操作。除了标准的诊断程序外，还对患者的鱼际肌肉进行复合肌肉动作电位（CMAP）扫描和神经兴奋性测试的电生理方案。将基于神经兴奋性和 CMAP 扫描的运动单位数量估计的联合诊断率与 Awaji 和黄金海岸标准进行比较，并确定其附加值。
共纳入 153 例 ALS 或进行性肌萎缩患者、63 例疾病对照者和 43 例健康对照者。我们的电生理方案具有较高的诊断准确性（曲线下面积 [AUC] 0.85，95%置信区间 [95%CI] 0.80-0.90），即使在神经轴索丢失无法检测的肌肉中（AUC 0.78，95%CI 0.70-0.85）和球部起病的患者中（AUC 0.85，95%CI 0.73-0.95）也是如此。24/33（73%）不能在同一就诊时确诊的 ALS 患者得到正确识别，8/13（62%）不符合黄金海岸标准的 ALS 患者和 49/59（83%）不符合 Awaji 标准的 ALS 患者也得到了正确识别。
我们实用且非侵入性的电生理方案可能会改善临床上有挑战性的疑似 ALS 患者的早期诊断。常规应用可能会提高早期诊断率，增强患者选择并为临床试验生成基线测量。
