Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis
Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis
复制标题
DOI：
10.1111/jns.12350
复制
发表时间：
2019-10-14
影响因子：
3.8
通讯作者：
Reilly, Mary M.
中科院分区：
文献类型：
--
作者：
Kapoor, Mahima;Foiani, Martha;Reilly, Mary M.
遗传性甲状腺素运载蛋白淀粉样变性（ATTRm）导致作为多系统疾病的一部分的致残性周围神经病变。高效基因沉默疗法的最新发展突出了对疾病活动的有效生物标志物的需求，以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，ATTRm周围神经病变患者的pNfL显著升高。此外，pNFL与疾病严重程度相关，如在可获得此信息的患者中确定的临床结果测量所定义的。这些发现表明pNfL在监测ATTRm患者的疾病活动和进展中的潜在作用。
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.