Russo Massimo, De Luca M, Gentile L, D'Arma F, Pugliese A, Macaione V, Polito F, Licitri L, Cafarchio A, Aguennouz M H, Rodolico C, Mazzeo A
Department of Clinical and Experimental Medicine, University of Messina, Via Consolare Valeria N°1, Policlinico "G. Martino", Messina, Italy.
Department of Medicine and Health Sciences "Vincenzo Tibero" DIMES, University of Molise, Campobasso, 86100, Italy.
Neurol Sci. 2025 Mar 19. doi: 10.1007/s10072-025-08110-0.
Hereditary transthyretin amyloidosis (ATTRv) presents unique challenges in diagnosis and monitoring due to its phenotypic and genetic heterogeneity. This study evaluates the utility of serum neurofilaments light chains (NfL) as a reliable biomarker of disease activity in patients carrying different pathogenic TTR variants. Twenty-eight ATTRv patients carrying the following mutations (p.Phe84Leu, p.Glu109Gln, p.Thr69Ala, p.Val50Met) as well as 8 carriers and 27 healthy control subjects underwent extensive examination, including serum NfL measurement, neuropathy impairment score for the lower limb (NIS-LL), compound autonomic dysfunction test (CADT), and polyneuropathy disability (PND) scores, at T0, T6 and T12. The study not only confirms the previously established correlation between serum NfL concentrations and disease severity scales but also extends these observations to the mutations reported here. Furthermore, the research highlights the potential of serum NfLs as discriminators between presymptomatic carriers and symptomatic patients, emphasizing their utility in predicting disease onset and facilitating timely intervention.
遗传性转甲状腺素蛋白淀粉样变性（ATTRv）因其表型和基因异质性，在诊断和监测方面存在独特挑战。本研究评估了血清神经丝轻链（NfL）作为携带不同致病性TTR变体患者疾病活动可靠生物标志物的效用。28例携带以下突变（p.Phe84Leu、p.Glu109Gln、p.Thr69Ala、p.Val50Met）的ATTRv患者以及8名携带者和27名健康对照受试者在T0、T6和T12时接受了全面检查，包括血清NfL测量、下肢神经病变损害评分（NIS-LL）、复合自主神经功能障碍测试（CADT）和多发性神经病变残疾（PND）评分。该研究不仅证实了血清NfL浓度与疾病严重程度量表之间先前已确立的相关性，还将这些观察结果扩展至本文报道的突变。此外，该研究突出了血清NfL作为症状前携带者和症状性患者鉴别指标的潜力，强调了其在预测疾病发作和促进及时干预方面的效用。
