Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia.
Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia.
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中国致死性家族性失眠患者的临床特征及睡眠分析。
DOI：
10.1038/s41598-017-03817-3
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发表时间：
2017-06-15
影响因子：
4.6
通讯作者：
Zhan S
中科院分区：
文献类型：
--
作者：
Wu L;Lu H;Wang X;Liu J;Huang C;Ye J;Li C;Lu J;Wang Y;Jia J;Zhan S
本研究旨在探讨中国家族性致死性失眠症（FFI）患者的临床特征、睡眠情况、异常的睡眠 - 觉醒转换及非睡眠障碍，以及实验室检查结果。对临床和实验室确诊为FFI的患者进行了回顾性分析。采用了临床特征以及包括多导睡眠图（PSG）、脑部影像学和基因分析等辅助检查的结果。本研究招募了2名男性和3名女性患者。5名患者中有3名拥有更全面的家族病历。5名患者最典型的临床表现为睡眠障碍，包括失眠、喉喘鸣、睡眠呼吸紊乱以及与睡眠相关的不自主运动。这5例患者的PSG均显示总睡眠时间减少、睡眠碎片化、非快速眼动 - 快速眼动（REM）周期异常缩短、REM睡眠减少或缺失，以及清醒状态下出现REM睡眠指令。2号患者的发射断层扫描显示左丘脑和双侧顶下叶葡萄糖摄取减少。总之，中国FFI患者典型表现为器质性睡眠相关症状、快速进展性痴呆和交感神经症状。我们认为丘脑和皮层的结构损伤是导致FFI临床表现的主要原因。
This study aimed to examine clinical features, sleep, abnormal sleep-wake transition and non-sleep disturbances as well as lab tests in Chinese fatal familial insomnia (FFI) subjects. Patients with confirmed clinical and laboratory diagnosis of FFI have been retrospectively reviewed. The clinical features and the results of the complementary tests, including polysomnography (PSG), brain imaging and genetic analysis, were used. Two male and three female patients were recruited in this study. Three of the five patients had more comprehensive family medical records. The most typical clinical manifestations in all 5 patients were sleep disturbances, including insomnia, laryngeal stridor, sleep breath disturbance, and sleep-related involuntary movements. PSG of all these five cases showed reduction in total sleep time, sleep fragmentation, abnormal short non-rapid eye movement - rapid eye movement (REM) cycling, REM sleep reduction or loss, and REM sleep instruction in wakefulness. Patient 2's emission tomography scan demonstrated a reduction in glucose uptake in the left thalamus and bilateral inferior parietal lobe. In summary, Chinese FFI patients are typically characterized by organic sleep related symptoms, rapidly progressive dementia and sympathetic symptoms. We propose that structural damages in the thalamus and cortex are mostly responsible for clinical manifestations of FFI.