Effects of Tafamidis Meglumine on Transient Focal Neurological Episodes and Meningeal Contrast Enhancement in Hereditary Transthyretin-Related Meningeal Amyloidosis: Report of Two Patients Carrying the c.265T>C (p.Y89H) Variant

IF 2.7 3区心理学 Q2 BEHAVIORAL SCIENCES

Brain and Behavior Pub Date : 2025-09-10 DOI:10.1002/brb3.70856

Natsumi Saito, Yasuko Kuroha, Ayaka Ishiyama, Takahiro Wakasugi, Takayoshi Tokutake, Arika Hasegawa, Tetsuya Takahashi

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Abstract

Background

Y69H (p.Y89H) variant hereditary transthyretin (ATTRv) amyloidosis causes meningeal amyloidosis, with mutant TTR deposits localized to the leptomeninges and vitreous body.

Methods

The effect of tafamidis meglumine on neurological disorders, such as the frequency of transient focal neurological episodes (TFNEs), magnetic resonance imaging (MRI) findings, and TTR levels in cerebrospinal fluid, was investigated in two patients diagnosed with Y69H ATTRv mutation.

Results

The initial symptoms in both patients were TFNEs, such as aphasia, sensory disturbance, motor paralysis, ataxia, and drop attacks. Neither epileptic drugs nor antiplatelet therapy decreased the frequency of attacks. The patients exhibited diffuse leptomeningeal enhancement on brain and spinal MRI. Tafamidis meglumine was initiated at a dose of 20 mg/day and was found to be partially effective. The TFNEs nearly resolved, and meningeal enhancement on brain MRI improved; however, the neurological deficits progressed over the following 2 years.

Conclusions

Tafamidis had a partial effect on TFNEs and meningeal contrast enhancement on MRI; however, cerebellar ataxia and cognitive decline continued to progress.

Abstract Image

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Tafamidis Meglumine对遗传性转甲状腺素相关脑膜淀粉样变性患者短暂局灶性神经发作和脑膜造影剂增强的影响：两例携带C . 265t >C （p.Y89H）变异的患者报告

背景：Y69H （p.Y89H）变异遗传性转甲状腺素（ATTRv）淀粉样变性引起脑膜淀粉样变性，突变TTR沉积于脑膜轻脑膜和玻璃体。方法：对2例诊断为Y69H ATTRv突变的患者，观察他非他胺对神经系统疾病的影响，如短暂局灶性神经发作（TFNEs）频率、磁共振成像（MRI）表现和脑脊液TTR水平。结果：两例患者的首发症状均为TFNEs，如失语、感觉障碍、运动麻痹、共济失调、跌倒发作等。癫痫药物和抗血小板治疗均不能降低发作频率。患者在脑和脊柱MRI上表现为弥漫性脑脊膜增强。他法非底斯的起始剂量为20mg /天，发现部分有效。TFNEs基本消退，脑MRI脑膜增强改善；然而，在接下来的2年里，神经功能障碍继续恶化。结论：他法非地对TFNEs和脑膜MRI增强有部分影响；但小脑性共济失调和认知能力下降继续进展。

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来源期刊

Brain and Behavior BEHAVIORAL SCIENCES-NEUROSCIENCES

CiteScore

5.30

自引率

0.00%

发文量

352

审稿时长

14 weeks

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