NfL as a biomarker in ATTRv amyloidosis: potential and limitations.

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-03-19 DOI:10.1007/s10072-025-08110-0

Massimo Russo, M De Luca, L Gentile, F D'Arma, A Pugliese, V Macaione, F Polito, L Licitri, A Cafarchio, M H Aguennouz, C Rodolico, A Mazzeo

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引用次数: 0

Abstract

Hereditary transthyretin amyloidosis (ATTRv) presents unique challenges in diagnosis and monitoring due to its phenotypic and genetic heterogeneity. This study evaluates the utility of serum neurofilaments light chains (NfL) as a reliable biomarker of disease activity in patients carrying different pathogenic TTR variants. Twenty-eight ATTRv patients carrying the following mutations (p.Phe84Leu, p.Glu109Gln, p.Thr69Ala, p.Val50Met) as well as 8 carriers and 27 healthy control subjects underwent extensive examination, including serum NfL measurement, neuropathy impairment score for the lower limb (NIS-LL), compound autonomic dysfunction test (CADT), and polyneuropathy disability (PND) scores, at T0, T6 and T12. The study not only confirms the previously established correlation between serum NfL concentrations and disease severity scales but also extends these observations to the mutations reported here. Furthermore, the research highlights the potential of serum NfLs as discriminators between presymptomatic carriers and symptomatic patients, emphasizing their utility in predicting disease onset and facilitating timely intervention.

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NfL作为ATTRv淀粉样变的生物标志物：潜力和局限性。

遗传性甲状腺转蛋白淀粉样变性（ATTRv）由于其表型和遗传异质性，在诊断和监测方面提出了独特的挑战。本研究评估了血清神经丝轻链（NfL）作为携带不同致病性TTR变异的患者疾病活动性的可靠生物标志物的效用。28例携带以下突变（p.p phe84leu, p.p glu109gln, p.p thr69ala, p.p val50met）的ATTRv患者以及8名携带者和27名健康对照者在T0、T6和T12时进行了广泛的检查，包括血清NfL测量、下肢神经病变损害评分（lis - ll）、复合自主神经功能障碍测试（CADT）和多神经病变残疾（PND）评分。该研究不仅证实了先前建立的血清NfL浓度与疾病严重程度之间的相关性，而且还将这些观察结果扩展到本文报道的突变。此外，该研究强调了血清nfl作为症状前携带者和症状患者之间的鉴别器的潜力，强调了它们在预测疾病发作和促进及时干预方面的作用。

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

Neurological Sciences 医学-临床神经学

CiteScore

6.10

自引率

3.00%

发文量

743

审稿时长

4 months

期刊介绍： Neurological Sciences is intended to provide a medium for the communication of results and ideas in the field of neuroscience. The journal welcomes contributions in both the basic and clinical aspects of the neurosciences. The official language of the journal is English. Reports are published in the form of original articles, short communications, editorials, reviews and letters to the editor. Original articles present the results of experimental or clinical studies in the neurosciences, while short communications are succinct reports permitting the rapid publication of novel results. Original contributions may be submitted for the special sections History of Neurology, Health Care and Neurological Digressions - a forum for cultural topics related to the neurosciences. The journal also publishes correspondence book reviews, meeting reports and announcements.