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家族性致死性失眠症临床及相关特征(附1例报道)
引用本文:骆翔,贾清,霍江涛,黄涛,肖庚富,王伟,卜碧涛.家族性致死性失眠症临床及相关特征(附1例报道)[J].卒中与神经疾病,2007,14(6):353-356.
作者姓名:骆翔  贾清  霍江涛  黄涛  肖庚富  王伟  卜碧涛
作者单位:1. 华中科技大学同济医学院附属同济医院神经内科,武汉,430030
2. 华中科技大学同济医学院附属协和医院PET中心
3. 武汉大学生命科学院病毒学国家重点实验室CJD检测中心
摘    要:目的研究1例家族性致死性失眠症(Familial Fatal Insomnia,FFI)的临床及相关特征。方法分析家族性致死性失眠症患者的临床特征、动态脑电图正电子发射计算机断层扫描及基因测序等相关检查结果。结果朊蛋白基因分析基因D178N突变,并与129Met等位基因连锁;动态脑电图检查未见睡梭波出现,慢波睡眠明显减少;正电子发射计算机断层扫描显示丘脑代谢明显降低。结论家族性致死性失眠症具有特征性的临床、基因学、动态脑电图及正电子发射计算机断层扫描影像学改变。

关 键 词:家族性致死性失眠症  朊蛋白  正电子发射计算机断层扫描
文章编号:1007-0478(2007)06-0353-04
收稿时间:2007-06-11
修稿时间:2007-07-05

Characteristics of familial fatal insomnia (a case report)
Luo Xiang , Jia Qing , Huo Jiangtao,et al..Characteristics of familial fatal insomnia (a case report)[J].Stroke and Nervous Diseases,2007,14(6):353-356.
Authors:Luo Xiang  Jia Qing  Huo Jiangtao  
Institution:Luo Xiang , Jia Qing , Huo Jiangtao, et al.
Abstract:Objective To explore the clinical characteristics and ancillary investigation of a case with familial fatal insomnia(FFI)and review the related literatures.Methods A middle-aged patient who complained of insomnia,tremulous jerks of the extremities and declined memory for 7 months was investigated clinically and related ancillary investigations including long-term electroencephalogram monitoring,position emission tomography(PET)and genotyping were reported.Results The clinical features of this case were compared with those of typical fatal familial insomnia.The diagnosis was confirmed by recognizing D178N mutation in combination with 129Met in prion protein gene(PRNP)gene,lack of sleep spindles and increased slow waves on EEG,and significantly thalamic hypometabolism on PET.Conclusions Based on the clinical presentation,the alterations on EEG and PET scan,and characteristic D178N mutation linked with 129Met in PRNP gene,The diagnosis of FFI was confirmedly made.
Keywords:Familial fatal insomnia Prion PET
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