家族性致死性失眠症的临床和睡眠多导图特征  

Clinical features and sleep analysis of fatal familial insomnia

作　　者：武力勇[1] 叶静[1] 赵筱玲[1] 贺菲菲[1] 詹淑琴[1] 贾建平[1] WU Li-yong YE Jing ZHAO Xiao-ling HE Fei-fei ZHAN Shu-qin JIA Jian-ping(Department of Neurology, the Xuanwu Hospital, Capital Medical University, Beijing 100053, China)

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《脑与神经疾病杂志》2017年第8期507-511,共5页Journal of Brain and Nervous Diseases

基　　金：国家自然科学基金(81470074);北京市科学技术委员会临床特色课题(Z141107002514117);北京市卫生系统高层次卫生技术人才培养项目(2014-3-051)

摘　　要：目的报道1例经基因检查结果证实的家族性致死性失眠症(FFI)家系2例患者的临床表现、影像学检查、睡眠多导图(PSG)检查。方法对于来自于同一个家系的2例中老年亚急性进行性痴呆患者进行临床和神经心理检查,行腰穿、头颅MRI、脑血流灌注、脑电图、PSG以及PRNP基因等检查。结果(1)该家系2代中共有4位患者,先证者和其妹妹先后发病,发病年龄分别为62岁和60岁,主要表现为失眠、睡眠相关喉鸣和不自主运动,快速进展性痴呆以及自主神经障碍。自发病至去世病程分别为10个月和11个月;(2)基因检查显示20号染色体PRNP基因出现D178N突变,129位氨基酸为M/M型;(3)PSG示睡眠效率减低,睡眠结构异常,I期睡眠减少,II期睡眠比例减少,REM睡眠缺如,阻塞性呼吸暂停事件,最低血氧饱和度为83%;(4)头颅MRI基本正常;(5)PET脑血流灌注显像,双侧中下额叶葡萄糖代谢率降低,左侧丘脑前下部葡萄糖代谢率减低。结论 FFI表现为顽固性失眠及睡眠相关障碍、快速进展性痴呆以及自主神经障碍。PSG和PRNP基因检查有助于FFI诊断。Objective To examine clinical features, sleep, abnormal sleep-wake transition and non-sleep disturbances as well as lab tests in one fatal familial insomnia （ FFI ） pedigree. Method 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. Results The proband and one affected patient were recruited in this study. The most typical clinical manifestations in these two patients were sleep disturbances, including insomnia, laryngeal stridor, sleep breath disturbance, and sleep-related involuntary movements. Furthermore, other clinical manifestations are rapidly progressive dementia and progressive sympathetic symptoms, including hypertension, sweating, tachycardia, irregular breathing, dysarthria, etc. PSG of all these two 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＇s 2 positron emission tomography （ PET ） scan demonstrated a reduction in glucose uptake in the left thalamus and bilateral inferior parietal lobe.Conclusion FFI patients are typically characterized by organic sleep related symptoms, rapidly progressive dementia and sympathetic symptoms. PSG test and PRNP gene analysis are helpful for the diagnosis of FFI.

关 键 词：痴呆 失眠 家族性失眠症 睡眠多导图 PRNP基因 

分 类 号：R741[医药卫生—神经病学与精神病学]