Neurofilament light chain: a biomarker at the crossroads of clarity and confusion for gene-directed therapies.

IF 2.3 Q3 CLINICAL NEUROLOGY
Michael Christian A Virata, Jesus Alfonso Catahay, Giuseppe Lippi, Brandon M Henry
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引用次数: 0

Abstract

Neurofilament light chain (NfL) is a promising biomarker for neurodegenerative diseases, measurable in both CSF and blood upon neuroaxonal damage. While CSF analysis was traditionally used, blood-based assays now offer a less invasive alternative. NfL levels correlate with disease severity and progression in conditions like Alzheimer's disease, amyotrophic lateral sclerosis, multiple sclerosis and Huntington's disease. Clinical trials demonstrate its utility as a pharmacodynamic biomarker in MS and ALS. The FDA's approval of Tofersen for SOD1-ALS based on NfL reduction underscores its growing acceptance as surrogate marker. However, challenges remain in standardizing assays, interpreting clinical correlations, low specificity and understanding the dynamics between CSF and blood NfL levels. Addressing these issues is crucial for maximizing NfL's potential in neurodegenerative disease management.

神经丝蛋白轻链:处于基因导向疗法清晰与混乱交叉点的生物标志物。
神经丝蛋白轻链(NfL)是一种很有前景的神经退行性疾病生物标记物,在神经轴受损时可在脑脊液和血液中检测到。传统上使用脑脊液分析,而现在基于血液的检测提供了一种侵入性较小的替代方法。NfL 水平与阿尔茨海默病、肌萎缩侧索硬化症、多发性硬化症和亨廷顿氏病等疾病的严重程度和进展相关。临床试验证明,它可以作为多发性硬化症和渐冻症的药效生物标记物。美国食品及药物管理局批准 Tofersen 用于 SOD1-ALS 的治疗,其依据是 NfL 的降低,这表明它作为替代标志物的认可度在不断提高。然而,标准化检测、解释临床相关性、低特异性以及了解脑脊液和血液 NfL 水平之间的动态变化等方面仍存在挑战。解决这些问题对于最大限度地发挥 NfL 在神经退行性疾病管理中的潜力至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
4.30
自引率
0.00%
发文量
35
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