Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a multisystemic disorder inherited as an autosomal dominant trait. Transitory events in ATTR-FAP patients are a feature of this disorder and remain poorly depicted in the literature. We aimed to describe a case series of ATTR-FAP patients who presented to our department with transitory events and document the clinical, neuroimaging and neurophysiological characteristics of the events.

We collected data from eight patients carrying the Val30Met ATTR-FAP variant. We registered a total of 23 events. Of the eight patients, seven had been submitted to hepatic transplant.

The events were either TIA-like or seizures, often followed by prolonged language, motor or sensory impairment. In 9 (39%) of the events, the patients presented with fever, but an infection was only found in 5 (21%). Cerebrospinal fluid analysis was performed in 5 patients. EEG was abnormal in at least 1 event in 7 of the 8 patients. Brain MRI was performed in 3 patients during the acute stage and showed no acute lesions.

Although the etiology of these events remains unclear, brain MRI performed in the acute phase of acute TIA-like events and the EEG abnormalities, argues in favor of regional brain dysfunction due to amyloid deposition. Focal neurological episodes should be considered in long-term duration Val30Met ATTR amyloidosis patients, who present with acute neurological deficits or seizures.

甲状腺素相关家族性淀粉样多发性神经病 (ATTR-FAP) 是一种多系统疾病，作为常染色体显性遗传。ATTR-FAP 患者的暂时性事件是这种疾病的一个特征，在文献中很少描述。我们的目的是描述一系列 ATTR-FAP 患者的病例系列，这些患者因短暂事件而向我们部门提出并记录了事件的临床、神经影像学和神经生理学特征。

我们收集了来自携带 V​​al30Met ATTR - FAP 变体的八名患者的数据。我们共注册了 23 个事件。在八名患者中，七名已接受肝移植。

这些事件要么是 TIA 样的，要么是癫痫发作，通常伴随着长期的语言、运动或感觉障碍。在 9 次 (39%) 的事件中，患者出现发烧，但仅在 5 次 (21%) 中发现感染。5 名患者进行了脑脊液分析。8 名患者中有 7 名至少有 1 次脑电图异常。3 例患者在急性期进行了脑部 MRI，未见急性病变。

尽管这些事件的病因尚不清楚，但在急性 TIA 样事件和 EEG 异常的急性期进行的脑 MRI 支持由于淀粉样蛋白沉积引起的局部脑功能障碍。长期服用 Val30Met ATTR 淀粉样变性的患者应考虑局灶性神经系统发作，这些患者表现为急性神经功能缺损或癫痫发作。