Thebault Simon, Booth Ronald A, Freedman Mark S
Department of Medicine and the Ottawa Hospital Research Institute, The University of Ottawa, Ottawa, ON K1H8L6, Canada.
Department of Pathology and Laboratory Medicine, Eastern Ontario Regional Laboratory Association and Ottawa Hospital Research Institute, University of Ottawa & The Ottawa Hospital, Ottawa, ON K1H8L6, Canada.
Biomedicines. 2020 Nov 21;8(11):523. doi: 10.3390/biomedicines8110523.
Blood neurofilament light chain (NfL) is a marker of neuro-axonal injury showing promising associations with outcomes of interest in several neurological conditions. Although initially discovered and investigated in the cerebrospinal fluid (CSF), the recent development of ultrasensitive digital immunoassay technologies has enabled reliable detection in serum/plasma, obviating the need for invasive lumbar punctures for longitudinal assessment. The most evidence for utility relates to multiple sclerosis (MS) where it serves as an objective measure of both the inflammatory and degenerative pathologies that characterise this disease. In this review, we summarise the physiology and pathophysiology of neurofilaments before focusing on the technological advancements that have enabled reliable quantification of NfL in blood. As the test case for clinical translation, we then highlight important recent developments linking blood NfL levels to outcomes in MS and the next steps to be overcome before this test is adopted on a routine clinical basis.
血液神经丝轻链（NfL）是神经轴突损伤的标志物，在几种神经系统疾病中，它与感兴趣的预后显示出有前景的关联。尽管最初是在脑脊液（CSF）中发现并研究的，但超灵敏数字免疫分析技术的最新发展已能够在血清/血浆中进行可靠检测，从而无需进行侵入性腰椎穿刺来进行纵向评估。关于其效用的最有力证据与多发性硬化症（MS）有关，在MS中它作为该疾病特征性的炎症和退行性病变的客观指标。在这篇综述中，我们先总结神经丝的生理学和病理生理学，然后重点关注能够对血液中的NfL进行可靠定量的技术进步。作为临床转化的测试案例，我们接着强调将血液NfL水平与MS预后联系起来的近期重要进展，以及在该检测被常规应用于临床之前需要克服的后续步骤。
