title: [Analysis for clinical and genetic characteristics of a sporadic FFI case].
abstract: OBJECTIVE
  To report and study a case of sporadic family fatal insomnia (SFFI) on its.
  
  
  METHODS
  Investigate clinical characteristics and family disease history of a suspect FFI patient. His clinical characteristic was analyzed, he and his 14 family members genomic DNA was extracted by standard techniques from their and blood detected with polymerase chain reaction (PCR) method and DNA sequencing to find out his prion protein (PrP) gene mutation. The patient's CSF was detected with Western-Blot method for 14-3-3 brain protein.
  
  
  RESULTS
  The patient was diagnosed as an sporadic FFI by his developed sleep disturbance and changes in sleep-awake rhythm, motor abnormalities, mental disorder, dementia, autonomic dysfunction; his family history; his 14-3-3 brain protein-positive (CSF) and analysis results of his PrP gene (codon point mutation D178N and methionine homozygosity at position 129M/M). Suggesting that in the future to identify CJD and FFI patients, screening should focus on clinical symptoms and laboratory results. The PrP gene of 14 family members did not appear Mutation, and there is no person suffering from the same disease.
  
  
  CONCLUSIONS
  The case was diagnosed as a sporadic familial fatal insomnia. Analysis of suspicious patients' genomic DNA for PrP gene mutation might be very important for FFI diagnosis because there exist many difficulties in clinical laboratory evaluation. This patient might be the first SFFI patient reported in China and the case finding might have momentousness in clinical and basical study.
authors.affiliation: Institute for Infectious Disease Control and Prevention, Henan Center for Disease Control and Prevention, Zhengzhou 450016, China.
authors.forename: Sheng-li
authors.initials: SL
authors.lastname: Xia
authors.forename: Yu-ming
authors.initials: YM
authors.lastname: Xu
authors.forename: Qiang
authors.initials: Q
authors.lastname: Xu
authors.forename: Zhi-qiang
authors.initials: ZQ
authors.lastname: Xie
authors.forename: Xiao-jing
authors.initials: XJ
authors.lastname: Shen
authors.forename: Wei
authors.initials: W
authors.lastname: Zhou
authors.forename: Ran
authors.initials: R
authors.lastname: Du
authors.forename: Jin
authors.initials: J
authors.lastname: Zhang
authors.forename: Jun
authors.initials: J
authors.lastname: Han
authors.forename: Bian-li
authors.initials: BL
authors.lastname: Xu
authors.forename: Xiao-ping
authors.initials: XP
authors.lastname: Dong
mesh_terms: D048948:14-3-3 Proteins / Q000235:genetics; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018620:PrPSc Proteins / Q000235:genetics
chemical_list: D048948:14-3-3 Proteins; D018620:PrPSc Proteins