多灶性运动神经病酷似肌萎缩侧索硬化症：血清神经丝轻链作为可靠的诊断生物标志物。

Multifocal motor neuropathy as a mimic of amyotrophic lateral sclerosis: Serum neurofilament light chain as a reliable diagnostic biomarker.

机构信息

Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Department of Neurology, Medical University of Vienna, Vienna, Austria.

出版信息

Muscle Nerve. 2024 Apr;69(4):422-427. doi: 10.1002/mus.28054. Epub 2024 Feb 9.

DOI:10.1002/mus.28054

PMID:38334356

Abstract

INTRODUCTION/AIMS: The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower motor neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have specific treatments and prognoses, highlighting the importance of early diagnosis. The aim of this study was to assess the diagnostic value of serum neurofilament light chain (NfL) in differentiating MMN from LMN dominant ALS.

METHODS

NfL was measured in serum in n = 37 patients with MMN and n = 37 age- and sex-matched patients with LMN dominant ALS, to determine the diagnostic accuracy. Clinical and demographic data were obtained at the time of NfL sampling.

RESULTS

Serum NfL concentration was significantly lower in MMN patients compared to ALS patients (mean 20.7 pg/mL vs. 59.4 pg/mL, p < .01). NfL demonstrated good diagnostic value in discriminating the two groups (AUC 0.985 [95% CI 0.963-1.000], sensitivity 94.6%, specificity 100%, cut-off 44.00 pg/mL).

DISCUSSION

NfL could be a helpful tool in differentiating MMN from LMN dominant ALS in those patients in whom electrophysiological and clinical examinations remain inconclusive early in the diagnostic process.

摘要

简介/目的：多灶运动神经病（MMN）的临床表现可能类似于以明显下运动神经元（LMN）受累为主的早期肌萎缩侧索硬化症（ALS），这构成了诊断上的挑战。这两种疾病都有特定的治疗方法和预后，因此早期诊断尤为重要。本研究旨在评估血清神经丝轻链（NfL）在区分 MMN 与 LMN 主导的 ALS 中的诊断价值。

方法

在 n = 37 例 MMN 患者和 n = 37 例年龄和性别匹配的 LMN 主导 ALS 患者的血清中测量 NfL，以确定诊断准确性。在采集 NfL 样本时获得了临床和人口统计学数据。

结果

与 ALS 患者相比，MMN 患者的血清 NfL 浓度显著降低（平均值 20.7pg/mL 与 59.4pg/mL，p < 0.01）。NfL 在区分两组方面具有良好的诊断价值（AUC 0.985 [95% CI 0.963-1.000]，敏感性 94.6%，特异性 100%，截断值 44.00pg/mL）。