患有P102L型格斯特曼-施特劳斯勒-谢克尔病（GSS）的两姐妹的睡眠和体温节律
Sleep and temperature rhythms in two sisters with P102L Gerstmann-Sträussler-Scheinker (GSS) disease.
作者信息
Provini Federica, Vetrugno Roberto, Pierangeli Giulia, Cortelli Pietro, Rizzo Giovanni, Filla Alessandro, Strisciuglio Caterina, Gallassi Roberto, Montagna Pasquale
机构信息
Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo, 7, 40123 Bologna, Italy.
出版信息
Sleep Med. 2009 Mar;10(3):374-7. doi: 10.1016/j.sleep.2008.03.004. Epub 2008 Jun 11.
BACKGROUND
Sleep disorders are increasingly recognized in the symptomatology of many neurodegenerative diseases. Gerstmann-Sträussler-Scheinker (GSS) disease is a hereditary prion disease featuring cerebellar ataxia, akinetic parkinsonism, pyramidal signs and cognitive decline.
METHODS
We performed a polysomnographic study (PSG) of sleep and body core temperature (BcT degrees ) in two sisters with GSS.
RESULTS
Our study showed protracted nocturnal awakenings, reduced sleep efficiency and brief daytime naps but also qualitatively preserved slow-wave and REM sleep and substantially normal arousal and periodic limb movements in sleep indices and BcT degrees rhythm.
CONCLUSIONS
These findings conflict with those in multiple system atrophy and other prion diseases such as fatal familial insomnia, which enter the differential diagnosis of GSS and are characterized by prominently disrupted sleep-wake and BcT degrees cycles.
背景
睡眠障碍在许多神经退行性疾病的症状学中越来越受到重视。格斯特曼-施特劳斯勒-谢inker（GSS）病是一种遗传性朊病毒病，其特征为小脑共济失调、运动不能性帕金森综合征、锥体束征和认知功能减退。
方法
我们对两名患有GSS的姐妹进行了睡眠和体核温度（BcT度）的多导睡眠图研究（PSG）。
结果
我们的研究显示夜间觉醒时间延长、睡眠效率降低和白天短暂小睡，但慢波睡眠和快速眼动睡眠在质量上得以保留，睡眠指标和BcT度节律中的觉醒和周期性肢体运动基本正常。
结论
这些发现与多系统萎缩和其他朊病毒病（如致死性家族性失眠症）的发现相矛盾，后者进入GSS的鉴别诊断，其特征是睡眠-觉醒和BcT度周期明显紊乱。
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