Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia

Abstract 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 cl...

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Autores principales:	Liyong Wu, Hui Lu, Xianling Wang, Jia Liu, Chaoyang Huang, Jing Ye, Cuijiang Li, Jun Lu, Yuping Wang, Jianping Jia, Shuqin Zhan
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/5e21a265700549c2bc473e72adf5ada2
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spelling	oai:doaj.org-article:5e21a265700549c2bc473e72adf5ada22021-12-02T12:30:51ZClinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia10.1038/s41598-017-03817-32045-2322https://doaj.org/article/5e21a265700549c2bc473e72adf5ada22017-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-03817-3https://doaj.org/toc/2045-2322Abstract 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.Liyong WuHui LuXianling WangJia LiuChaoyang HuangJing YeCuijiang LiJun LuYuping WangJianping JiaShuqin ZhanNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Liyong Wu Hui Lu Xianling Wang Jia Liu Chaoyang Huang Jing Ye Cuijiang Li Jun Lu Yuping Wang Jianping Jia Shuqin Zhan Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia
description	Abstract 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.
format	article
author	Liyong Wu Hui Lu Xianling Wang Jia Liu Chaoyang Huang Jing Ye Cuijiang Li Jun Lu Yuping Wang Jianping Jia Shuqin Zhan
author_facet	Liyong Wu Hui Lu Xianling Wang Jia Liu Chaoyang Huang Jing Ye Cuijiang Li Jun Lu Yuping Wang Jianping Jia Shuqin Zhan
author_sort	Liyong Wu
title	Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia
title_short	Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia
title_full	Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia
title_fullStr	Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia
title_full_unstemmed	Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia
title_sort	clinical features and sleep analysis of chinese patients with fatal familial insomnia
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/5e21a265700549c2bc473e72adf5ada2
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Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia

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