title: The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP.
abstract: A case of Creutzfeldt-Jakob disease (CJD) with a rare mutation of the prion protein (PrP) gene (PRNP) at codon 208 (R208H), while the codon 129 was a methionine homozygous genotype is reported. The patient initial displayed hand tremor, dizziness and progressive cognitive dysfunction. Subsequently, other symptoms gradually appeared, including cerebellar ataxia and mental disorder. No periodic activity was recorded at electroencephalography (EEG) and 14-3-3 protein in cerebrospinal fluid was negative. Total clinical course was about 4 months. Retrospective investigation of this family across seven generations did not figure out clear family history. However, genetic analyses revealed six first-degree family members with the R208H allele.
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, China.
authors.forename: Cao
authors.initials: C
authors.lastname: Chen
authors.forename: Qi
authors.initials: Q
authors.lastname: Shi
authors.forename: Chan
authors.initials: C
authors.lastname: Tian
authors.forename: Qing
authors.initials: Q
authors.lastname: Li
authors.forename: Wei
authors.initials: W
authors.lastname: Zhou
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: D044466:Asian People; D001483:Base Sequence; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics / Q000378:metabolism; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics* / Q000378:metabolism
chemical_list: D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D008715:Methionine