title: Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease.
abstract: Eight cases of rare genetic Creutzfeldt-Jakob disease (gCJD) with a mutation T188K in PRNP have been identified and diagnosed genetically in China since 2006. Among the eight cases, the median age of disease onset was 58years old (ranging from 39 to 76years old). Progressive dementia and pyramidal or extrapyramidal dysfunction appeared in all cases and lasted during the entire clinical course. Myoclonus and visual or cerebellar disturbances were also frequently observed. The median duration of disease was 3months. Cerebral MRI findings revealed high caudate and putamen signals in four out of eight cases. CSF in six out of eight patients tested positive for the 14-3-3 protein. Only one case showed periodic sharp-waves (PSW) in EEG. Most cases lacked a family history of associated diseases, though one patient's mother died of a neurologic disorder without a definite diagnosis. Our data reveal that Chinese T188K gCJD cases have clinical characteristics similar to that of sporadic CJD (sCJD). Compared with other inherited prion disease-associated mutations in China, the genetic frequencies of T188K in PRNP of Han-Chinese are relatively high.
authors.affiliation: State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Changbai Rd. 155, Beijing 102206, People's Republic of China.
authors.forename: Cao
authors.initials: C
authors.lastname: Chen
authors.forename: Qi
authors.initials: Q
authors.lastname: Shi
authors.forename: Wei
authors.initials: W
authors.lastname: Zhou
authors.forename: Xiu-Chun
authors.initials: XC
authors.lastname: Zhang
authors.forename: Jian-Hua
authors.initials: JH
authors.lastname: Dong
authors.forename: Xing-Qiang
authors.initials: XQ
authors.lastname: Hu
authors.forename: Xiao-Nan
authors.initials: XN
authors.lastname: Song
authors.forename: Ai-Fen
authors.initials: AF
authors.lastname: Liu
authors.forename: Chan
authors.initials: C
authors.lastname: Tian
authors.forename: Ji-Chun
authors.initials: JC
authors.lastname: Wang
authors.forename: Chen
authors.initials: C
authors.lastname: Gao
authors.forename: Jin
authors.initials: J
authors.lastname: Zhang
authors.forename: Jun
authors.initials: J
authors.lastname: Han
authors.forename: Xiao-Ping
authors.initials: XP
authors.lastname: Dong
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid; D000328:Adult; D000368:Aged; D002681:China; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011328:Prions / Q000235:genetics*
chemical_list: D048948:14-3-3 Proteins; D011328:Prions