Progressive leptomeningeal involvement on gadolinium-enhanced FLAIR MRI in hereditary transthyretin amyloidosis with the V30M (p.V50M) mutation.

IF 5.1 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Amyloid-Journal of Protein Folding Disorders Pub Date : 2026-07-17 DOI:10.1080/13506129.2026.2702928

Yohei Misumi, Toshiya Nomura, Tomoaki Taguchi, Shiori Yamakawa, Hiroyuki Uetani, Masayoshi Tasaki, Konen Obayashi, Taro Yamashita, Toshinori Hirai, Yukio Ando, Mitsuharu Ueda

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引用次数: 0

Abstract

Background: Advances in disease-modifying therapies for hereditary transthyretin (ATTRv) amyloidosis have improved long-term survival. As a result, central nervous system (CNS) involvement, particularly leptomeningeal amyloidosis and cerebral amyloid angiopathy, is increasingly encountered in V30M (p.V50M) patients. However, the frequency, distribution, and progression of CNS involvement on MRI remain unclear.

Methods: We retrospectively analyzed patients with ATTR V30M amyloidosis who underwent brain MRI with gadolinium-enhanced FLAIR (Gd-FLAIR) or susceptibility-weighted imaging (SWI) between 2010 and 2025. Associations between leptomeningeal enhancement, cerebral microbleeds, and clinical parameters were evaluated.

Results: Leptomeningeal enhancement on Gd-FLAIR was observed in 13/44 patients (29.5%); disease duration was longer in patients with enhancement than in those without (15.0 [8.9-22.8] vs. 5.2 [2.4-10.5] years, p < 0.001). The semiquantitative Gd-FLAIR score correlated with disease duration (r_s = 0.56, p < 0.001). In contrast, cerebral microbleeds were not associated with disease duration or progression. Leptomeningeal enhancement appeared as focal surface lesions in early stages and became diffuse in advanced stages, predominantly involving the posterior fossa.

Conclusions: Leptomeningeal enhancement on Gd-FLAIR MRI is a frequent and progressive finding associated with disease duration and may precede cerebral microbleeds, supporting its role as an early and sensitive marker in ATTR V30M amyloidosis.

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遗传性甲状腺转蛋白淀粉样变性伴V30M （p.V50M）突变的钆增强FLAIR MRI进行性轻脑膜受累

背景：遗传性甲状腺转蛋白（ATTRv）淀粉样变性的疾病修饰疗法的进展改善了长期生存率。因此，中枢神经系统（CNS）受累，特别是脑薄脑膜淀粉样变性和脑淀粉样血管病，越来越多地出现在V30M （p.V50M）患者中。然而，MRI上中枢神经系统受累的频率、分布和进展尚不清楚。方法：我们回顾性分析了2010年至2025年间接受钆增强FLAIR （Gd-FLAIR）或敏感性加权成像（SWI）脑MRI检查的ATTR V30M淀粉样变性患者。我们评估了脑膜增强、脑微出血和临床参数之间的关系。结果：44例患者中有13例（29.5%）出现Gd-FLAIR增强；结论：Gd-FLAIR MRI轻脑膜增强是一种与病程相关的频繁进行性发现，可能是脑微出血的前兆，支持其作为ATTR V30M淀粉样变性的早期敏感标志物的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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

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.