Department of Neurology, Jiangxi Provincial People's Hospital, The First Affiliated Hospital of Nanchang Medical College, Nanchang 330006, China.
The Clinical College of Nanchang Medical College, Nanchang 330006, China.
Rev Neurosci. 2024 Jul 9;35(8):917-931. doi: 10.1515/revneuro-2024-0037. Print 2024 Dec 17.
Amyotrophic lateral sclerosis (ALS) currently lacks the useful diagnostic biomarkers. The current diagnosis of ALS is mainly depended on the clinical manifestations, which contributes to the diagnostic delay and be difficult to make the accurate diagnosis at the early stage of ALS, and hinders the clinical early therapeutics. The more and more pathogenesis of ALS are found at the last 30 years, including excitotoxicity, the oxidative stress, the mitochondrial dysfunction, neuroinflammation, the altered energy metabolism, the RNA misprocessing and the most recent neuroimaging findings. The findings of these pathogenesis bring the new clues for searching the diagnostic biomarkers of ALS. At present, a large number of relevant studies about the diagnostic biomarkers are underway. The ALS pathogenesis related to the diagnostic biomarkers might lessen the diagnostic reliance on the clinical manifestations. Among them, the cortical altered signatures of ALS patients derived from both structural and functional magnetic resonance imaging and the emerging proteomic biomarkers of neuronal loss and glial activation in the cerebrospinal fluid as well as the potential biomarkers in blood, serum, urine, and saliva are leading a new phase of biomarkers. Here, we reviewed these current potential diagnostic biomarkers of ALS.
肌萎缩侧索硬化症（ALS）目前缺乏有用的诊断生物标志物。目前 ALS 的诊断主要依赖于临床表现，这导致了诊断延迟，并且难以在 ALS 的早期阶段做出准确诊断，从而阻碍了临床早期治疗。在过去的 30 年中，人们发现了越来越多的 ALS 发病机制，包括兴奋性毒性、氧化应激、线粒体功能障碍、神经炎症、能量代谢改变、RNA 错误处理以及最近的神经影像学发现。这些发病机制的发现为寻找 ALS 的诊断生物标志物提供了新的线索。目前，正在进行大量与诊断生物标志物相关的相关研究。与诊断生物标志物相关的 ALS 发病机制可能会减少对临床表现的诊断依赖。其中，来自结构和功能磁共振成像的 ALS 患者的皮质改变特征以及脑脊液中神经元丢失和神经胶质激活的新兴蛋白质组学生物标志物以及血液、血清、尿液和唾液中的潜在生物标志物正在引领一个新的生物标志物阶段。在这里，我们回顾了这些目前 ALS 的潜在诊断生物标志物。
