Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Department of Neurology, New York University School of Medicine, New York, NY.
Ann Neurol. 2021 Apr;89(4):823-827. doi: 10.1002/ana.26008. Epub 2021 Jan 11.
Fatal familial insomnia (FFI) is a rare inherited prion disease characterized by sleep, autonomic, and motor disturbances. Neuro-ophthalmological abnormalities have been reported at the onset of disease, although not further characterized. We analyzed video recordings of eye movements of 6 patients with FFI from 3 unrelated kindreds, seen within 6 months from the onset of illness. Excessive saccadic intrusions were the most prominent findings. In patients with severe insomnia, striking saccadic intrusions are an early diagnostic clue for FFI. The fact that the thalamus is the first structure affected in FFI also suggests its role in the control of steady fixation. ANN NEUROL 2021;89:823-827.
致命家族性失眠症（FFI）是一种罕见的遗传性朊病毒病，以睡眠、自主和运动障碍为特征。尽管没有进一步描述，但在疾病发作时已经报道了神经眼科异常。我们分析了来自 3 个无关家族的 6 名 FFI 患者的眼球运动视频记录，这些患者在发病后 6 个月内接受了检查。过度的扫视闯入是最突出的发现。在严重失眠的患者中，显著的扫视闯入是 FFI 的早期诊断线索。在 FFI 中，丘脑是第一个受影响的结构，这一事实也表明它在稳定注视的控制中发挥作用。神经病学年鉴 2021；89：823-827.
