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在ATTRv Amyloidosis中Sudoscan:疾病进展的潜在标志物?
Angela Romano1, Valeria Guglielmino2, Francesca Vitali2
1UOC Neurologia, Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.
Neurology and therapy
|March 17, 2025
概括
苏多斯坎有效地测量了遗传性转基因氨基粉症 (ATTRv) 的自主功能障碍. 皮肤电化学导电性 (ESC) 与疾病的严重程度和进展相关,特别是在脚部,有助于临床试验.
科学领域:
- 神经学 神经学
- 临床诊断 临床诊断 临床诊断
- 遗传学 遗传学 是一个
背景情况:
- 遗传性转基因氨基粉症 (ATTRv) 是一种严重的,进展性遗传性疾病,由于氨基纤维沉积而导致器官损伤.
- 苏多斯坎评估汗腺功能和小神经纤维完整性,提供自主功能的可重复测量.
研究的目的:
- 为了评估电化学皮肤导电性 (ESC) 的变化,使用Sudoscan在ATTRv患者中随着时间的推移.
- 评估Sudoscan作为ATTRv疾病严重程度和进展的标志物的作用.
主要方法:
- 61名具有TTR变异的ATTRv患者进行了Sudoscan评估.
- 分析了ESC与临床数据 (计量表,问卷) 之间的相关性,以确定疾病的严重程度.
- 对23名患者每年ESC变化的纵向分析评估了疾病进展.
主要成果:
- ESC值 (脚和手) 与疾病持续时间和神经病变严重程度有显著的相关性.
- 脚ESC (fESC) 的显著纵向下降被观察到,但手ESC (hESC) 没有.
- 在评估时,ESC和患者年龄之间没有发现相关性.
结论:
- 苏多斯坎是一种可靠的标志物,用于ATTRv氨基粉症的dysautonomia.
- ESC显示出作为疾病严重程度和进展的标志物的潜力,对临床试验很有用.
- 脚ESC似乎是ATTRv.中自主功能障碍的重要,独立的预测因子.
相关概念视频
03:03Amyloid Fibrils
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
03:03Amyloid Fibrils
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...