title: Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.
abstract: Here, we report a Chinese case of Creutzfeldt-Jakob disease (CJD) with a rare mutation in the prion protein gene (PRNP) leading to an exchange of amino acid from valine (Val) to isoleucine (I) at codon 203 (V203I). The 80-y-old male presented with sudden memory loss, rapid loss of vocabulary, inattention and slow responses, accompanied by dizziness, blurred vision and ataxia. Two weeks after admission, he exhibited tremor, myoclonus and bilateral Babinski signs. At the end of the clinical course, he developed severe akinetic mutism. The cerebrospinal fluid (CSF) was positive for 14-3-3 protein. Increased bilateral signal intensity in the frontal and parietal lobes was seen on diffusion-weighted imaging (DWI); periodic activity was recorded on an electroencephalogram (EEG). There was no family history of similar symptoms. The total clinical course was approximately two months.
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, Beijing, PR China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Shi
authors.forename: Cao
authors.initials: C
authors.lastname: Chen
authors.forename: Xian-Jun
authors.initials: XJ
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Zhou
authors.forename: Ji-Chun
authors.initials: JC
authors.lastname: Wang
authors.forename: Bao-Yun
authors.initials: BY
authors.lastname: Zhang
authors.forename: Chen
authors.initials: C
authors.lastname: Gao
authors.forename: Chen
authors.initials: C
authors.lastname: Gao
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; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D001921:Brain / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D017354:Point Mutation; D011328:Prions / Q000235:genetics*
chemical_list: D048948:14-3-3 Proteins; D011328:Prions
keywords: 14-3-3 protein; Creutzfeldt–Jakob disease; PRNP; V203I; mutation