Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Department of Neurology, Chongqing University Central Hospital, Chongqing, China.
Eur Neurol. 2021;84(1):6-15. doi: 10.1159/000513008. Epub 2021 Jan 21.
Alzheimer's disease (AD) is the most common neurodegenerative disease characterized by progressive memory loss and cognitive impairment. In 2011, the National Institute on Aging and Alzheimer's Association (NIA-AA) Research Framework has proposed to use biomarkers to diagnose AD in living persons. AD core biomarkers show high diagnostic specificity in distinguishing AD from healthy control subjects, but have little additional value for prognosis or stage of disease.
With the update of detection methods and techniques, other AD biomarkers have been discovered. Neurofilament light (NFL) is currently recognized as a biomarker of nerve axonal injury and one of the candidate markers in AD neurodegeneration, and the relationship between NFL and AD pathophysiology has attracted widespread attention. More and more studies have shown that NFL plays an important role in predicting the clinical progress and prognosis of AD. Recently, the genome-wide association study also found that multiple single-nucleotide polymorphisms are associated with NFL levels and AD risk. Key Messages: In this review, we discuss the relationship between the genetic characteristics of NFL and AD, the NFL levels in AD, and the relationship between NFL and AD core biomarkers, neuroimaging, and cognitive performance.
阿尔茨海默病(AD)是最常见的神经退行性疾病,其特征是进行性记忆丧失和认知障碍。2011 年,美国国家老龄化研究所和阿尔茨海默病协会(NIA-AA)研究框架提出使用生物标志物来诊断活人体内的 AD。AD 的核心生物标志物在区分 AD 与健康对照方面具有很高的诊断特异性,但对预后或疾病阶段几乎没有额外的价值。
随着检测方法和技术的更新,已经发现了其他 AD 生物标志物。神经丝轻链(NFL)目前被认为是神经轴突损伤的生物标志物,也是 AD 神经退行性变的候选标志物之一,NFL 与 AD 病理生理学的关系引起了广泛关注。越来越多的研究表明,NFL 在预测 AD 的临床进展和预后方面发挥着重要作用。最近,全基因组关联研究还发现,多个单核苷酸多态性与 NFL 水平和 AD 风险相关。
在这篇综述中,我们讨论了 NFL 的遗传特征与 AD 的关系、AD 中 NFL 水平以及 NFL 与 AD 的核心生物标志物、神经影像学和认知表现之间的关系。