Hereditary transthyretin amyloidosis (ATTRm) causes a disabling peripheral neuropathy as part of a multisystem disorder. The recent development of highly effective gene silencing therapies has highlighted the need for effective biomarkers of disease activity to guide the decision of when to start and stop treatment. In this study, we measured plasma neurofilament light chain (pNfL) concentration in 73 patients with ATTR and found that pNfL was significantly raised in ATTRm patients with peripheral neuropathy compared to healthy controls. Furthermore, pNFL correlated with disease severity as defined by established clinical outcome measures in patients for whom this information was available. These findings suggest a potential role of pNfL in monitoring disease activity and progression in ATTRm patients.

中文翻译：

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血浆神经丝轻链浓度增加，并与遗传性甲状腺素转运蛋白淀粉样变性病的神经病变严重程度相关。

遗传性甲状腺素转运蛋白淀粉样变性病（ATTRm）导致致残的周围神经病变，是多系统疾病的一部分。高效基因沉默疗法的最新发展突显了需要有效的疾病活动生物标志物来指导何时开始和停止治疗的决定。在这项研究中，我们测量了73例ATTR患者的血浆神经丝轻链（pNfL）浓度，发现与健康对照组相比，患有周围神经病的ATTRm患者pNfL显着升高。此外，pNFL与疾病严重程度相关，该疾病严重程度已由可获得该信息的患者通过既定的临床结果指标确定。这些发现表明，pNfL在监视ATTRm患者的疾病活动和进展中具有潜在作用。