Department of Medical Physics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, Islamic Republic of Iran.
Mol Neurobiol. 2020 Jan;57(1):469-491. doi: 10.1007/s12035-019-01698-3. Epub 2019 Aug 5.
The search for diagnostic and prognostic biomarkers for neurodegenerative conditions is of high importance, since these disorders may present difficulties in differential diagnosis. Biomarkers with high sensitivity and specificity are required. Neurofilament light chain (NfL) is a unique biomarker related to axonal damage and neural cell death, which is elevated in a number of neurological disorders, and can be detected in cerebrospinal fluid (CSF), as well as blood, serum, or plasma samples. Although the NfL concentration in CSF is higher than that in blood, blood measurement may be easier in practice due to its lesser invasiveness, reproducibility, and convenience. Many studies have investigated NfL in both CSF and serum/plasma as a potential biomarker of neurodegenerative disorders. Neuroimaging biomarkers can also potentially improve detection of CNS-related disorders at an early stage. Magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) are sensitive techniques to visualize neuroaxonal loss. Therefore, investigating the combination of NfL levels with indices extracted from MRI and DTI scans could potentially improve diagnosis of CNS-related disorders. This review summarizes the evidence for NfL being a reliable biomarker in the early detection and disease management in several CNS-related disorders. Moreover, we highlight the correlation between MRI and NfL and ask whether they can be combined.
寻找神经退行性疾病的诊断和预后生物标志物非常重要,因为这些疾病在鉴别诊断时可能存在困难。需要具有高灵敏度和特异性的生物标志物。神经丝轻链(NfL)是一种与轴突损伤和神经细胞死亡相关的独特生物标志物,在许多神经疾病中升高,可在脑脊液(CSF)以及血液、血清或血浆样本中检测到。尽管 CSF 中的 NfL 浓度高于血液,但由于其侵袭性较小、可重复性和便利性,血液测量在实践中可能更容易。许多研究已经在 CSF 和血清/血浆中研究了 NfL 作为神经退行性疾病的潜在生物标志物。神经影像学生物标志物也可能潜在地提高对中枢神经系统相关疾病的早期检测。磁共振成像(MRI)和弥散张量成像(DTI)是可视化神经轴突丢失的敏感技术。因此,研究 NfL 水平与 MRI 和 DTI 扫描中提取的指标相结合,可能有助于提高中枢神经系统相关疾病的诊断。本综述总结了 NfL 作为几种中枢神经系统相关疾病早期检测和疾病管理的可靠生物标志物的证据。此外,我们强调了 MRI 和 NfL 之间的相关性,并询问它们是否可以结合。