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  • Title: [Clinical, neuroimaging and genetic features of two Chinese families with fatal familial insomnia].
    Author: Bian Y, Wang S, Han XC, Yao S, Liu JG, Qi XK.
    Journal: Zhonghua Yi Xue Za Zhi; 2018 Aug 21; 98(31):2501-2504. PubMed ID: 30139003.
    Abstract:
    Objective: To examine clinical, neuroimaging and genetic features of two Chinese families with fatal familial insomnia (FFI). Methods: The clinical data, including case history, physical examination, biochemical analysis of blood and neuroimaging of two pedigrees with FFI who admitted to the Navy General Hospital in 2014 and 2017 were collected. The D178N prion protein (PRNP) mutation were determined by DNA sequencing among the proband and family members. Results: There were 6 patients in 2 families, 5 male and 1 female. The onset age of disease in family 1 was 47 and 60 years old respectively, and 46, 58, 58, 60 years old respectively in family 2. In terms of disease course, patients in family 1 had a rapid disease course and died half year after onset while patients in family 2 had a relatively slow disease course and survived more than 1 year after onset.The induced factors of the patients in the family 1 were fright, followed by abnormal behaviors and sleep disorders accompanied by autonomic nervous dysfunction; the clinical features of the pedigree 2 were memory loss, decreased sleep and motor disorder without obvious inducement, and the autonomic nervous dysfunction was not significant. The neuroimaging examination of 2 probands showed a mild atrophy of the whole brain and no ribbon sign. The electroencephalography (EEG) did not show typical triphasic waves. Both cases had a positive cerebrospinal fluid (CSF) 14-3-3 protein and PrP D178N /Met-129 mutation.All patients were given traditional sedatives or anti-anxiety and depression drugs which were with poor efficacy. Conclusions: The major clinical manifestations of FFI are sleep disorders accompanied by mental disorders. The clinical manifestations are similar among different individuals within one family, however, there is obvious clinical variability among different families. The neuroimaging examination shows a mild atrophy of the whole brain and no ribbon sign. There are no typical triphasic waves in EEG. Positive CSF 14-3-3 protein and PrP D178N /Met-129 mutation are common in FFI. Traditional sedatives or anti-anxiety and depression drugs may have poor efficacy. 目的： 探讨2个致死性家族性失眠症(FFI)家系患者的临床、影像及基因改变特点。 方法： 收集2014、2017年在海军总医院就诊的2个FFI家系患者的临床资料并进行总结；对先证者行视频脑电及头影像学检查，脑脊液14-3-3蛋白及朊蛋白基因(PRNP)测定。 结果： 2个家系共6例患者，男5例，女1例。家系1起病年龄分别为47、60岁；家系2起病年龄分别为46、58、58、60岁。家系1的2例患者死亡总病程约6个月；家系2的患者病程均超过12个月，仍存活。家系1患者诱发因素为惊吓，后出现睡眠障碍、精神行为异常伴自主神经功能紊乱表现；家系2的患者无明显诱因，以记忆力下降、睡眠减少起病，后出现运动障碍症状，自主神经功能紊乱表现不突出。影像检查2例先证者示全脑轻度萎缩，未见彩带症；视频脑电未发现周期性三相波；2例先证者脑脊液14-3-3蛋白均阳性；PRNP基因均为D178N-129MM型；所有患者均给予传统镇静药或抗焦虑抑郁药，疗效不佳。 结论： 睡眠紊乱伴精神行为异常是FFI主要的临床表现；FFI在家系内部不同个体间临床表现相似，而在不同的家系间有明显的临床变异性；影像学表现为全脑轻度萎缩，无彩带征；脑脊液14-3-3蛋白阳性；PRNP基因均为D178N-129MM型；视频脑电未发现周期性三相波；传统镇静药或抗焦虑抑郁药对其疗效不佳。.
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