Neurofilament light chain as a biomarker for hereditary ATTR amyloidosis - correlation between neurofilament light chain and nerve conduction study.

IF 5.2 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-10-08 DOI:10.1080/13506129.2024.2409760

Masateru Tajiri, Mitsuto Sato, Minori Kodaira, Akira Matsushima, Yusuke Mochizuki, Yusuke Takahashi, Ken Takasone, Emre Aldinc, Simina Ticau, Gang Jia, Yoshiki Sekijima

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引用次数: 0

Abstract

Background: Neurofilament light chain (NfL) is a biomarker of neuronal injury in hereditary ATTR (ATTRv) amyloidosis. However, the correlation between NfL and nerve conduction study (NCS), the standard test for ATTRv neuropathy, has not been investigated.

Objective: Elucidate the correlation between NfL and NCS parameters.

Methods: 227 serum NfL measurements were performed in 45 ATTRv patients, 5 asymptomatic carriers, and 12 controls. Among them, 177 simultaneous analyses of NCS and NfL were conducted in 45 ATTRv patients.

Results: NfL levels of symptomatic patients were significantly higher than those of asymptomatic carriers and controls. Serum NfL levels were correlated with NCS parameters, especially compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes, indicators of axonal damage. CMAP and/or SNAP amplitudes were undetectable in 9 patients (no-amplitude group) due to advanced neuropathy. NfL levels in the no-amplitude group were significantly higher than those in patients with detectable CMAP/SNAP. NfL levels significantly decreased with patisiran, although no significant changes were observed in CMAP and SNAP.

Conclusions: NfL levels are found to be correlated with CMAP/SNAP amplitudes. Compared with NCS, NfL can be a more sensitive biomarker for detecting treatment response and active nerve damage even in patients with advanced neuropathy.

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神经丝蛋白轻链作为遗传性ATTR淀粉样变性病的生物标志物--神经丝蛋白轻链与神经传导研究之间的相关性。

背景：神经丝蛋白轻链（NfL）是遗传性ATTR（ATTRv）淀粉样变性神经元损伤的生物标志物。然而，NfL与神经传导研究（NCS）（ATTRv神经病变的标准检测方法）之间的相关性尚未得到研究：方法：对 45 名 ATTRv 患者、5 名无症状携带者和 12 名对照者进行了 227 次血清 NfL 测量。其中，对 45 名 ATTRv 患者进行了 177 次 NCS 和 NfL 的同步分析：结果：有症状患者的 NfL 水平明显高于无症状携带者和对照组。血清NfL水平与NCS参数相关，尤其是复合肌肉动作电位（CMAP）和感觉神经动作电位（SNAP）振幅，它们是轴突损伤的指标。9名患者（无振幅组）因神经病变晚期而无法检测到CMAP和/或SNAP振幅。无振幅组的 NfL 水平明显高于可检测到 CMAP/SNAP 的患者。帕替西兰可明显降低 NfL 水平，而 CMAP 和 SNAP 则无明显变化：结论：NfL水平与CMAP/SNAP振幅相关。结论：NfL水平与CMAP/SNAP振幅相关。与NCS相比，NfL是检测治疗反应和活动性神经损伤的更灵敏的生物标志物，即使在晚期神经病患者中也是如此。

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

Amyloid-Journal of Protein Folding Disorders 生物-生化与分子生物学

CiteScore

10.60

自引率

10.90%

发文量

审稿时长

6-12 weeks

期刊介绍： Amyloid: the Journal of Protein Folding Disorders is dedicated to the study of all aspects of the protein groups and associated disorders that are classified as the amyloidoses as well as other disorders associated with abnormal protein folding. The journals major focus points are: etiology, pathogenesis, histopathology, chemical structure, nature of fibrillogenesis; whilst also publishing papers on the basic and chemical genetic aspects of many of these disorders. Amyloid is recognised as one of the leading publications on amyloid protein classifications and the associated disorders, as well as clinical studies on all aspects of amyloid related neurodegenerative diseases and major clinical studies on inherited amyloidosis, especially those related to transthyretin. The Journal also publishes book reviews, meeting reports, editorials, thesis abstracts, review articles and symposia in the various areas listed above.