Abstract: Prion diseases (PrD) are a group of encephalopathies with neurodegenerative changes caused by prion protein (PrP) whose characteristic datum is transmissibility. In most cases they occur in a sporadic form although a group of them are familial associated with mutations in PrP gene. Phenotypic
variability of fatal familial insomnia (FFI) versus familial Creutzfeldt-Jakob disease¹⁷⁸ (fCJD¹⁷⁸) seems to determine the different methionine-valine polymorphism at codon 129 of the PrP gene. Sleep disorders is one of the important clinical features for the diagnosis and definition of PrD. FFI, a hereditary disorder characterized by loss of physiological sleep with oneiric stupor, autonomic and motor hyperactivity. The polysomnography (PSG) shows disappearance of the physiological pattern of non-rapid eye movement (NREM) and rapid eye movement (REM) sleep, as well as sleep spindles and K-complexes were absent. The hypothesis of the origin of these disorders is thalamic neuronal loss, especially in the anterior and dorsomedial nuclei, described in the neuropathology of these patients; besides, PET reveals hypofunction of thalamic nuclei, centres responsible for controlling wake-sleep. In CJD the wake-sleep disorders is not considered characteristic; nonetheless, frequent alterations have been found in the electroencephalographic registers of sleep. Besides thalamic neurodegeneration, there could be common etiopathogenic mechanisms in PrD in relation to the biological function of PrP.

Key words: Prions diseases, Sleep disorders, Review

摘要： Prion 病是由传染性朊蛋白侵袭中枢神经系统引起的致死性神经变性脑病，睡眠障碍在Prion 病中十分常见，也是其诊断特征之一。其中致死性家族性失眠症表现为严重的生理睡眠缺失及特殊梦幻状态、自主神经功能失调和过度运动；多导睡眠图早期睡眠纺锤波和K 复合波消失，无法产生快速眼动和非快速眼动睡眠生理循环。除PET 扫描呈现丘脑低代谢，神经病理学观察可见丘脑神经元大量缺失，尤其是丘脑前核和背内侧核。尽管睡眠障碍亦常见于Creutzfeldt-Jakob 病患者，但并非该疾病特征，仅是丘脑受累标志；多导睡眠图所见频繁觉醒，除与丘脑神经元退行性改变有关外，可能还与朊蛋白生物学功能障碍即朊蛋白病发病的共同机制有关。

关键词: 朊病毒病, 睡眠障碍, 综述