We compared clinical data from two related Chinese patients with fatal familial insomnia (FFI) and collected information about their pedigree. The clinical features in the two cases were similar and included initial progressive insomnia and sympathetic activation, which persisted throughout the clinical course. A total of 135 members of this family, across seven generations, were retrospectively investigated. Eleven family members, including the two FFI cases, were found to have died with similar neurological problems. Analysis of PRNP in 32 family members revealed eleven carrying the D178N allele, including the two FFI patients. Spongiform degeneration in brains was not found, but gliosis was obvious in the thalamus of the two cases at postmortem. Proteinase K-resistant prion protein (PrP) was not found in proband's brain by immunohistochemistry, but observed in some areas of brain for both cases by PrP-specific Western blot. Investigation of the pedigree has led to the identification of an additional 9 family members who had similar clinical symptoms and 9 currently healthy individuals with the D178N mutation. (C) 2010 Elsevier B.V. All rights reserved.
基金：
Chinese National Natural Science FoundationNational Natural Science Foundation of China (NSFC) [30771914, 30800975]; National Science and Technology Task Force Project [2006BAD06A13-2]; Institution Technique RD Grant [2008EG150300]; National Basic Research Program of ChinaNational Basic Research Program of China [2007CB310505]; China Mega-Project for Infectious Disease [2009ZX10004-101]; SKLID development [2008SKLID102, 2008SKLID202]
第一作者单位：[2]Henan Prov Peoples Hosp, Dept Neurol, Zhengzhou, Peoples R China
通讯作者：
通讯机构：[1]Chinese Ctr Dis Control & Prevent, Natl Inst Viral Dis Control & Prevent, State Key Lab Infect Dis Prevent & Control, Beijing 100052, Peoples R China[*1]Chinese Ctr Dis Control & Prevent, Natl Inst Viral Dis Control & Prevent, State Key Lab Infect Dis Prevent & Control, Ying Xin Rd 100, Beijing 100052, Peoples R China
推荐引用方式(GB/T 7714)：
Shi Xiao-Hong,Han Jun,Zhang Jin,et al.Clinical, histopathological and genetic studies in a family with fatal familial insomnia[J].INFECTION GENETICS and EVOLUTION.2010,10(2):292-297.doi:10.1016/j.meegid.2010.01.007.
APA：
Shi, Xiao-Hong,Han, Jun,Zhang, Jin,Shi, Qi,Chen, Jian-Ming...&Dong, Xiao-Ping.(2010).Clinical, histopathological and genetic studies in a family with fatal familial insomnia.INFECTION GENETICS and EVOLUTION,10,(2)
MLA：
Shi, Xiao-Hong,et al."Clinical, histopathological and genetic studies in a family with fatal familial insomnia".INFECTION GENETICS and EVOLUTION 10..2(2010):292-297
