摘要
肌萎缩侧索硬化(ALS)是一种累及上、下运动神经元的致死性神经变性疾病。从发病至诊断普遍延迟1年左右,这与其发病机制不明、异质性高、缺乏特异性生物标志物相关。神经丝蛋白轻链(NFL)和磷酸化的神经丝蛋白重链(p-NFH)是神经元特异性细胞骨架蛋白,其在CSF和血液中的水平会随着神经轴突的损伤而升高,是一些神经系统疾病潜在的生物标志物。众多研究表明,ALS患者的CSF和血液NFL和p-NFH水平较健康者及其他神经系统疾病显著升高,具有高度的诊断敏感性和特异性。同时,NFs与其他生物标志物的联合检测有助于提高诊断的准确性。不仅如此,它们还与ALS的疾病进展和预后密切相关。NFL和p-NFH是目前ALS最有前景的生物标志物。本文主要从CSF和血液NFL和p-NFH在ALS诊断、监测疾病进展和判断预后等方面的应用进行综述。
Amyotrophic lateral sclerosis(ALS)is a fatal neurodegenerative disorder affecting of upper and lower motor neurons.The diagnostic delay is around about 1 year after symptom onset due to the unknown disease pathogenesis,high heterogeneity and the lack of specific biomarkers.Neurofilament light chain(NFL)and phosphorylated neurofilament heavy chain(p-NFH)are neuron-specific cytoskeletal proteins,whose levels rise upon neuroaxonal damage in CSF and blood,representing potential biomarkers in various neurological disorders.Massive studies have confirmed that NFL and p-NFH in CSF and blood are significantly elevated in patients with ALS compared to healthy controls and other neurological disorders,with high diagnostic sensitivity and specificity.In addition,the combination of neurofilament levels with other biomarkers could potentially improve diagnostic accuracy of ALS.Their levels are also found to closely correlate with disease progression and prognosis.NFL and p-NFH are the most promising candidate biomarkers for ALS.This review describes the applications of NFL and p-NFH in CSF and blood in diagnosis,progression monitoring and prognosis of ALS.
作者
王静雯
赵红东
时建铨
刘婷婷
WANG Jing-wen;ZHAO Hong-dong;SHI Jian-quan(Department of Neurology,Nanjing First Hospital,Nanjing Medical University,Nanjing 210006,China)
出处
《临床神经病学杂志》
CAS
2021年第4期307-310,共4页
Journal of Clinical Neurology
