title: [Studies on heredity rule of the first genealogy regarding fatal familial insomnia in Henan province].
abstract: OBJECTIVE
  To investigate the epidemiological, genealogic characteristic, familial history of the families with fatal familial insomnia, its clinical and pathological features as well as the heredity rule of related genes.
  
  
  METHODS
  135 familial members of 7 eras were studied. Vein blood samples from patients as well as from some familial members were collected. PRNP gene was studied with PCR, its serial was determined and then authenticated with Nsp I . Brain tissue was obtained for neuropathological test and PrP(Sc) test with Western blot method.
  
  
  RESULTS
  Clinical symptoms of the 2 diagnosed cases were typical. 11 familial members died of similar neural disease. 32 samples of their familial members, codon at D178N of PRNP of 11 members was mutated, with mutation rate as 34.38% while D129N showed as methionine. Brain tissue of both probands denaturalized into spongiform and the nerve fiber was absent but PrP(Sc) protein was identified.
  
  
  CONCLUSIONS
  Genealogy was described in the family with fatal familial insomnia since the patients had typical clinical symptoms and pathological characteristics. It seemed necessary to confirm cases of fatal familial insomnia and their genealogy with epidemiological data and to investigate its gene characteristics as well as with neuropathological and Western blot tests.
authors: Henan Provincial Center for Disease Control and Prevention, Zhengzhou 450016, China.
authors: Jin
authors: J
authors: Zhang
authors: Jun
authors: J
authors: Han
authors: Xiao-Hong
authors: XH
authors: Shi
authors: Wan-Shen
authors: WS
authors: Guo
authors: Sheng-Li
authors: SL
authors: Xia
authors: Qi
authors: Q
authors: Shi
authors: Jian-Ming
authors: JM
authors: Chen
authors: Wei-Qin
authors: WQ
authors: Zhao
authors: Zhi-Qiang
authors: ZQ
authors: Xie
authors: Xiao-Jing
authors: XJ
authors: Shen
authors: Meng-Lei
authors: ML
authors: Li
authors: Yan-Jun
authors: YJ
authors: Lei
authors: Song
authors: S
authors: Shi
authors: Wei
authors: W
authors: Zhou
authors: Bao-Yun
authors: BY
authors: Zhang
authors: Chen
authors: C
authors: Gao
authors: Bing
authors: B
authors: Shan
authors: Yan-Jun
authors: YJ
authors: Guo
authors: De-Xin
authors: DX
authors: Wang
authors: Bian-Li
authors: BL
authors: Xu
authors: Xiao-Ping
authors: XP
authors: Dong
mesh_terms: D000328:Adult; D000368:Aged; D002681:China / Q000453:epidemiology; D005260:Female; D030342:Genetic Diseases, Inborn; D006801:Humans; D040582:Inheritance Patterns; D034062:Insomnia, Fatal Familial / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D018620:PrPSc Proteins / Q000235:genetics
chemical_list: D018620:PrPSc Proteins