title: Clinical, histopathological and genetic studies in a family with fatal familial insomnia.
abstract: 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.
authors.affiliation: Department of Neurology, Henan Province People's Hospital, Zhengzhou, China.
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Shi
authors.forename: Jun
authors.initials: J
authors.lastname: Han
authors.forename: Jin
authors.initials: J
authors.lastname: Zhang
authors.forename: Qi
authors.initials: Q
authors.lastname: Shi
authors.forename: Jian-Ming
authors.initials: JM
authors.lastname: Chen
authors.forename: Sheng-Li
authors.initials: SL
authors.lastname: Xia
authors.forename: Zhi-Qiang
authors.initials: ZQ
authors.lastname: Xie
authors.forename: Xiao-Jing
authors.initials: XJ
authors.lastname: Shen
authors.forename: Bing
authors.initials: B
authors.lastname: Shan
authors.forename: Yan-Jun
authors.initials: YJ
authors.lastname: Lei
authors.forename: Song
authors.initials: S
authors.lastname: Shi
authors.forename: Wei
authors.initials: W
authors.lastname: Zhou
authors.forename: Bao-Yun
authors.initials: BY
authors.lastname: Zhang
authors.forename: Chen
authors.initials: C
authors.lastname: Gao
authors.forename: Ying-Hui
authors.initials: YH
authors.lastname: Liu
authors.forename: Juan
authors.initials: J
authors.lastname: Song
authors.forename: Yan-Jun
authors.initials: YJ
authors.lastname: Guo
authors.forename: De-Xin
authors.initials: DX
authors.lastname: Wang
authors.forename: Bian-Li
authors.initials: BL
authors.lastname: Xu
authors.forename: Xiao-Ping
authors.initials: XP
authors.lastname: Dong
mesh_terms: D000328:Adult; D015153:Blotting, Western; D001921:Brain / Q000378:metabolism; D019286:Endopeptidase K / Q000378:metabolism; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D019286:Endopeptidase K