T2-relaxometry in a large cohort of hereditary transthyretin amyloidosis with polyneuropathy.

IF 5.2 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-02 DOI:10.1080/13506129.2024.2398453
Anysia Poncelet, Ute Hegenbart, Stefan O Schönland, Georges Sam, Jan C Purrucker, Ernst Hund, Fabian Aus dem Siepen, Kira Göldner, John M Hayes, Sabine Heiland, Martin Bendszus, Markus Weiler, Jennifer C Hayes
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Abstract

Background: Previously, T2-relaxation time (T2app) and proton spin density (ρ) detected nerve injury in a small group of ATTRv amyloidosis. Here, we aim to quantify peripheral nerve impairment in a large cohort of symptomatic and asymptomatic ATTRv amyloidosis and correlate T2-relaxometry markers with clinical parameters and nerve conduction studies (NCS).

Methods: Eighty participants with pathologic variants of the transthyretin gene (TTRv) and 40 controls prospectively underwent magnetic resonance neurography. T2-relaxometry was performed, allowing to calculate tibial ρ, T2app and cross-sectional-area (CSA). Detailed clinical examinations and NCS of tibial and peroneal nerves were performed.

Results: Forty participants were classified as asymptomatic TTRv-carriers, 40 as symptomatic patients with polyneuropathy. ρ, T2app and CSA were significantly higher in symptomatic ATTRv amyloidosis (484.2 ± 14.8 a.u.; 70.6 ± 1.8 ms; 25.7 ± 0.9 mm2) versus TTRv-carriers (413.1 ± 9.4 a.u., p < 0.0001; 62.3 ± 1.3 ms, p = 0.0002; 19.0 ± 0.8 mm2, p < 0.0001) and versus controls (362.6 ± 7.5 a.u., p < 0.0001; 59.5 ± 1.0 ms, p < 0.0001; 15.4 ± 0.5 mm2, p < 0.0001). Only ρ and CSA differentiated TTRv-carriers from controls. ρ and CSA correlated with NCS in TTRv-carriers, while T2app correlated with NCS in symptomatic ATTRv amyloidosis. Both ρ and T2app correlated with clinical score.

Conclusion: ρ and CSA can detect early nerve injury and correlate with electrophysiology in asymptomatic TTRv-carriers. T2app increases only in symptomatic ATTRv amyloidosis in whom it correlates with clinical scores and electrophysiology. Our results suggest that T2-relaxometry can provide biomarkers for disease- and therapy-monitoring in the future.

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一大批遗传性经淀粉样蛋白淀粉样变性伴多发性神经病患者的 T2-松弛度测定。
背景:以前,T2-松弛时间(T2app)和质子自旋密度(ρ)可检测出一小部分ATTRv淀粉样变性患者的神经损伤。在此,我们旨在量化一大批有症状和无症状 ATTRv 淀粉样变性患者的外周神经损伤,并将 T2-松弛时间标记与临床参数和神经传导研究(NCS)相关联:方法:80 名患有转甲状腺素基因(TTRv)病理变异的患者和 40 名对照组患者前瞻性地接受了磁共振神经影像学检查。进行了 T2-松弛测量,以计算胫骨 ρ、T2app 和横截面积(CSA)。此外,还进行了详细的临床检查以及胫神经和腓总神经的NCS检查:有症状的 ATTRv 淀粉样变性患者的 ρ、T2app 和 CSA(484.2 ± 14.8 a.u.;70.6 ± 1.8 ms;25.7 ± 0.9 mm2)明显高于 TTRv 携带者(413.1 ± 9.4 a.u.;70.6 ± 1.8 ms;25.7 ± 0.9 mm2)、ρ和CSA与TTRv携带者的NCS相关,而T2app与无症状ATTRv淀粉样变性的NCS相关。结论:ρ和CSA可检测早期神经损伤,并与无症状TTRv携带者的电生理学相关。只有无症状的 ATTRv 淀粉样变性患者的 T2app 才会增加,而 T2app 与临床评分和电生理学相关。我们的研究结果表明,T2-松弛计可为未来的疾病和治疗监测提供生物标志物。
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来源期刊
Amyloid-Journal of Protein Folding Disorders
Amyloid-Journal of Protein Folding Disorders 生物-生化与分子生物学
CiteScore
10.60
自引率
10.90%
发文量
48
审稿时长
6-12 weeks
期刊介绍: Amyloid: the Journal of Protein Folding Disorders is dedicated to the study of all aspects of the protein groups and associated disorders that are classified as the amyloidoses as well as other disorders associated with abnormal protein folding. The journals major focus points are: etiology, pathogenesis, histopathology, chemical structure, nature of fibrillogenesis; whilst also publishing papers on the basic and chemical genetic aspects of many of these disorders. Amyloid is recognised as one of the leading publications on amyloid protein classifications and the associated disorders, as well as clinical studies on all aspects of amyloid related neurodegenerative diseases and major clinical studies on inherited amyloidosis, especially those related to transthyretin. The Journal also publishes book reviews, meeting reports, editorials, thesis abstracts, review articles and symposia in the various areas listed above.
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