Rebouh Hadia, Verschueren Annie, Fortanier Etienne, Grapperon Aude-Marie, Kouton Ludivine, Salort-Campana Emmanuelle, Attarian Shahram, Delmont Emilien
Referral centre for neuromuscular diseases and ALS, La Timone hospital, Aix-Marseille University, ERN-NMD, FILNEMUS, Marseille, France.
Eur J Neurol. 2025 Jan;32(1):e16571. doi: 10.1111/ene.16571. Epub 2024 Nov 28.
New treatments have dramatically improved the prognosis for Hereditary Transthyretin Amyloid Polyneuropathy (ATTRv-PN). However, there is a lack of routine follow-up studies outside of therapeutic trials. Our aim was to report the long-term clinical and electrophysiological evolution of a cohort of ATTRv-PN patients and to determine which biomarkers are most sensitive to change.
We retrospectively collected neuropathy impairment scale (NIS), polyneuropathy disability scale (PND), overall neuropathy limitation scale (ONLS), rash built overall disability scale (RODS), electrodiagnostic data, motor unit number index (MUNIX), troponin and N-terminal pro-brain natriuretic peptide levels. Electrophysiological worsening was defined as a 20% decrease in previous values.
Thirty-five patients, with a median age of 58 (interquartile ranges 42-71) years, were followed for a median of 36 (24-48) months. All patients received a transthyretin stabiliser, gene silencer or liver transplant. Overall assessment of the cohort showed clinical, biological and electrophysiological stability. However, on an individual basis, NIS worsened in 45% of patients (14/31), ONLS in 46% (13/28), PND in 28% (9/32) and RODS in 39% (11/28) at the last follow-up. Motor amplitude sum score decreased in 33% (11/33), amplitude recorded on tibialis anterior muscle in 44% (12/27), sensory amplitude sum score in 39% (11/28) and MUNIX sum score in 27% (7/26).
Overall effectiveness of ATTRv-PN treatments in routine care is good. However, individual assessments show up to 40% deterioration over time. Electrophysiological measures are valuable monitoring tools but are not more sensitive to change than clinical scores. Results must be confirmed in larger cohorts.
新的治疗方法显著改善了遗传性转甲状腺素蛋白淀粉样多神经病（ATTRv-PN）的预后。然而，在治疗试验之外缺乏常规的随访研究。我们的目的是报告一组ATTRv-PN患者的长期临床和电生理演变情况，并确定哪些生物标志物对变化最敏感。
我们回顾性收集了神经病变损害量表（NIS）、多神经病残疾量表（PND）、整体神经病变限制量表（ONLS）、皮疹累积整体残疾量表（RODS）、电诊断数据、运动单位数量指数（MUNIX）、肌钙蛋白和N末端脑钠肽前体水平。电生理恶化定义为较之前数值下降20%。
35例患者，中位年龄58（四分位间距42 - 71）岁，中位随访时间为36（24 - 48）个月。所有患者均接受了转甲状腺素蛋白稳定剂、基因沉默剂或肝移植治疗。对该队列的总体评估显示临床、生物学和电生理稳定性。然而，就个体而言，在最后一次随访时，45%（14/31）的患者NIS恶化，46%（13/28）的患者ONLS恶化，28%（9/32）的患者PND恶化，39%（11/28）的患者RODS恶化。运动幅度总和评分下降的患者占33%（11/33），胫前肌记录的幅度下降的患者占44%（12/27），感觉幅度总和评分下降的患者占39%（11/28），MUNIX总和评分下降的患者占27%（7/26）。
ATTRv-PN治疗在常规护理中的总体效果良好。然而，个体评估显示随着时间推移恶化率高达40%。电生理测量是有价值的监测工具，但对变化的敏感性并不比临床评分更高。结果必须在更大的队列中得到证实。
