BACKGROUND 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. SUMMARY 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.

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神经丝光作为阿尔茨海默病生物标志物的潜力

背景阿尔茨海默病(AD)是最常见的神经变性疾病，其特征在于进行性记忆丧失和认知障碍。2011 年，美国国家老龄化与阿尔茨海默病协会 (NIA-AA) 研究框架提出使用生物标志物来诊断活人的 AD。AD 核心生物标志物在区分 AD 与健康对照受试者方面表现出很高的诊断特异性，但对预后或疾病阶段几乎没有附加价值。总结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。神经丝光（NFL）是目前公认的神经轴索损伤的生物标志物和AD神经退行性疾病的候选标志物之一，NFL与AD病理生理的关系已引起广泛关注。越来越多的研究表明 NFL 在预测 AD 的临床进展和预后方面具有重要作用。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。关键信息：在这篇综述中，我们讨论了 NFL 和 AD 的遗传特征、AD 中的 NFL 水平之间的关系，以及 NFL 和 AD 核心生物标志物、神经影像学和认知能力之间的关系。