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The neuropathy in hereditary transthyretin amyloidosis: A narrative review
Journal of the Peripheral Nervous System ( IF 3.8 ) Pub Date : 2021-05-07 , DOI: 10.1111/jns.12451
Stefano Tozza 1 , Daniele Severi 1 , Emanuele Spina 1 , Aniello Iovino 1 , Francesco Aruta 1 , Lucia Ruggiero 1 , Raffaele Dubbioso 1 , Rosa Iodice 1 , Maria Nolano 1 , Fiore Manganelli 1
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Hereditary transthyretin amyloidosis (ATTRv) is a condition with adult onset, caused by mutation of the transthyretin (TTR) gene and characterized by extracellular deposition of amyloid fibrils in tissue, especially in the peripheral nervous system (PNS) and heart. PNS involvement leads to a rapidly progressive and disabling sensory-motor axonal neuropathy. Although awareness among neurologists increased in recent years thanks to new treatment options, ATTRv is frequently misdiagnosed, and thus a correct diagnosis can be delayed by several years. This review aims to draw the history and features of polyneuropathy in ATTRv based on pathological and electrophysiological correlates. We assessed original articles and case reports based on their relevance to ATTRv neuropathy and we included those appropriate for the scheme of this narrative review. Amyloid fibrils initially deposit in ganglia, causing an axonal neuropathy without amyloid deposits in distal segments (eg, sural nerve biopsy). Over time, amyloid fibrils spread along the nerves, leading to some demyelinating features in the context of severe axonal loss. This review highlights how the features of neuropathy change based on type of ATTRv (early vs late onset) and stage of disease.

中文翻译:

遗传性转甲状腺素蛋白淀粉样变性的神经病变:叙述性综述

遗传性转甲状腺素蛋白淀粉样变性 (ATTRv) 是一种成人发病的疾病,由转甲状腺素蛋白 ( TTR ) 突变引起) 基因,其特征是淀粉样蛋白原纤维在组织中的细胞外沉积,特别是在周围神经系统 (PNS) 和心脏中。PNS 受累导致快速进展和致残的感觉运动轴索神经病。尽管近年来由于新的治疗方案而提高了神经科医生的意识,但 ATTRv 经常被误诊,因此正确的诊断可能会延迟数年。本综述旨在根据病理和电生理学相关性,了解 ATTRv 多发性神经病的病史和特征。我们根据原始文章和病例报告与 ATTRv 神经病变的相关性进行了评估,并纳入了适合本叙述性审查方案的那些。淀粉样蛋白原纤维最初沉积在神经节中,导致轴索性神经病变,而远端节段没有淀粉样蛋白沉积(例如,腓肠神经活检)。随着时间的推移,淀粉样蛋白原纤维沿着神经扩散,在严重的轴突缺失的情况下导致一些脱髓鞘特征。这篇综述强调了神经病变的特征如何根据 ATTRv 的类型(早发与晚发)和疾病阶段而变化。
更新日期:2021-06-21
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