Abstract

Objective

To study serum neurofilament light chain (sNfL) in amyloid light chain (AL) amyloidosis patients with and without polyneuropathy (PNP) and to corroborate previous observations that sNfL is increased in hereditary transthyretin-related (ATTRv) amyloidosis patients with PNP.

Methods

sNfL levels were assessed retrospectively in patients with AL amyloidosis with and without PNP (AL/PNP+ and AL/PNP–, respectively), patients with ATTRv amyloidosis and PNP (ATTRv/PNP+), asymptomatic transthyretin (TTR) gene mutation carriers (TTRv carriers) and healthy controls. Healthy controls (HC) were age- and sex-matched to both AL/PNP– (HC/AL) and TTRv carriers (HC/TTRv). The single-molecule array (Simoa) assay was used to assess sNfL levels.

Results

sNfL levels were increased both in 10 AL/PNP+ patients (p < .001) and in 10 AL/PNP– patients (p < .005) compared to 10 HC/AL individuals. sNfL levels were higher in AL/PNP+ patients than in AL/PNP– patients (p < .005). sNfL levels were also increased in 15 ATTRv/PNP+ patients, compared to both 15 HC/TTRv (p < .0001) and 15 TTRv carriers (p < .0001). ATTRv/PNP+ patients with progressive PNP (PND-score > I) had the highest sNfL levels compared to patients with early PNP (PND-score I) (p = .05). sNfL levels did not differ between TTRv carriers and HC/TTRv individuals. In the group comprising all healthy controls and in the group of TTRv carriers, sNfL levels correlated with age.

Conclusion

sNfL levels are increased in patients with PNP in both AL and ATTRv amyloidosis and are related to severity of PNP in ATTRv amyloidosis. sNfL is a promising biomarker to detect PNP, not only in ATTRv but also in AL amyloidosis.

中文翻译：

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神经丝轻链，系统性淀粉样变性多发性神经病的生物标志物

摘要

客观的

研究患有和不患有多发性神经病 (PNP) 的淀粉样蛋白轻链 (AL) 淀粉样变性患者的血清神经丝轻链 (sNfL)，并证实先前的观察结果，即患有 PNP 的遗传性转甲状腺素相关 (ATTRv) 淀粉样变性患者中 sNfL 增加。

方法

回顾性评估伴有和不伴有 PNP 的 AL 淀粉样变性患者（分别为 AL/PNP+ 和 AL/PNP-）、ATTRv 淀粉样变性和 PNP 患者（ATTRv/PNP+）、无症状转甲状腺素蛋白（TTR）基因突变携带者（TTR v携带者）和健康对照。健康对照 (HC) 与 AL/PNP- (HC/AL) 和TTR v 携带者 (HC/ TTR v)的年龄和性别相匹配。单分子阵列 (Simoa) 测定用于评估 sNfL 水平。

结果

 与 10 名 HC/AL 个体相比，10名 AL/PNP+ 患者 ( p  < .001) 和 10 名 AL/PNP- 患者 ( p < .005)的 sNfL 水平均有所增加。AL/PNP+ 患者的 sNfL 水平高于 AL/PNP- 患者 ( p  < .005)。与 15 名 HC/ TTR v ( p  < .0001) 和 15名 TTR v 携带者 ( p < .0001)相比，15 名 ATTRv/PNP+ 患者的 sNfL 水平也有所增加 。与早期 PNP 患者（PND 评分 I）相比，具有进展性 PNP（PND 评分 > I）的 ATTRv/PNP+ 患者的 sNfL 水平最高（p  = .05）。sNfL 水平在TTR v 携带者和 HC/ TTR之间没有差异v 个人。在包含所有健康对照的组和TTR v 携带者组中，sNfL 水平与年龄相关。

结论

AL 和 ATTRv 淀粉样变性 PNP 患者的 sNfL 水平升高，并且与 ATTRv 淀粉样变性 PNP 的严重程度有关。sNfL 是一种很有前途的检测 PNP 的生物标志物，不仅在 ATTRv 中，而且在 AL 淀粉样变性中。