Plantone Domenico, Sabatelli Eleonora, Locci Sara, Marrodan Mariano, Laakso Sini M, Mateen Farrah J, Feresiadou Amalia, Buelens Tom, Bianco Assunta, Fiol Marcela P, Correale Jorge, Tienari Pentti, Calabresi Paolo, De Stefano Nicola, Iorio Raffaele
Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
Neurology Unit, Fondazione Policlinico Universitario 'A.Gemelli' IRCCS, Rome, Italy.
Eur J Neurol. 2023 Oct;30(10):3256-3264. doi: 10.1111/ene.15939. Epub 2023 Jun 29.
Serum levels of neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) are promising neuro-axonal damage and astrocytic activation biomarkers. Susac syndrome (SS) is an increasingly recognized neurological condition and biomarkers that can help assess and monitor disease evolution are highly needed for the adequate management of these patients. sNfL and sGFAP levels were evaluated in patients with SS and their clinical relevance in the relapse and remission phase of the disease was assessed.
As part of a multicentre study that enrolled patients diagnosed with SS from six international centres, sNfL and sGFAP levels were assessed in 22 SS patients (nine during a relapse and 13 in remission) and 59 age- and sex-matched healthy controls using SimoaTM assay Neurology 2-Plex B Kit.
Serum NfL levels were higher than those of healthy controls (p < 0.001) in SS patients and in both subgroups of patients in relapse and in remission (p < 0.001 for both), with significantly higher levels in relapse than in remission (p = 0.008). sNfL levels showed a negative correlation with time from the last relapse (r = -0.663; p = 0.001). sGFAP levels were slightly higher in the whole group of patients than in healthy controls (p = 0.046) and were more pronounced in relapse than in remission (p = 0.013).
In SS patients, both sNFL and sGFAP levels increased compared with healthy controls. Both biomarkers had higher levels during clinical relapse and much lower levels in remission. sNFL was shown to be time sensitive to clinical changes and can be useful to monitor neuro-axonal damage in SS.
血清神经丝轻链（sNfL）和胶质纤维酸性蛋白（sGFAP）水平是很有前景的神经轴突损伤和星形胶质细胞活化生物标志物。Susac综合征（SS）是一种越来越被认识的神经系统疾病，对于这些患者的适当管理，非常需要能够帮助评估和监测疾病进展的生物标志物。我们评估了SS患者的sNfL和sGFAP水平，并评估了它们在疾病复发和缓解期的临床相关性。
作为一项多中心研究的一部分（该研究纳入了来自六个国际中心的被诊断为SS 的患者），使用SimoaTM检测神经学2联B试剂盒，对22例SS患者（9例处于复发期，13例处于缓解期）和59例年龄及性别匹配的健康对照者的sNfL和sGFAP水平进行了评估。
SS患者以及复发和缓解亚组患者的血清NfL水平均高于健康对照者（p < 0.001），复发组的水平显著高于缓解组（两者p均 < ＜0.001），复发组水平显著高于缓解组（p = 0.008）。sNfL水平与距上次复发的时间呈负相关（r = - 0.663；p = 0.001）。sGFAP水平 在整个患者组中略高于健康对照者（p = ＜= 0.49）且无显著差异。
在SS患者中，sNfL和sGFAP水平均较健康对照者升高。两种生物标志物 在临床复发期间水平较高，而在缓解期则低得多。sNfL对临床变化具有时间敏感性，可用于监测SS中的神经轴突损伤。
