title: Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.
abstract: Abstract Here, we reported 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 (V) to isoleucine (I) at codon 180 (V180I). The 72 year-old Chinese women started with gradual memory loss. On admission, she did not present special abnormality during clinical examinations except bradykinesia in her lower extremities. Myoclonic jerks and increased muscle tone were noticed 3 months after the onset. No periodic activity was recorded at electroencephalography (EEG) and 14-3-3 protein was negative in the cerebrospinal fluid (CSF) sample. Brain diffusion weighted images (DWI) demonstrated high signal intensities in bilateral frontal, parietal, temporal and occipital cortices, especially on the left hemisphere, and high signal intensities were also seen in the left caudate nucleus and the putamen. The patient had no family history of similar symptoms. Her general condition was gradually deteriorative, but the patient was still alive when we performed the follow-up 12 months after onset.
authors.affiliation: a State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases (Zhejiang University, Hangzhou); National Institute for Viral Disease Control and Prevention; Chinese Center for Disease Control and Prevention ; Beijing , China ;
authors.forename: Qi
authors.initials: Q
authors.lastname: Shi
authors.forename: Xiao-Jing
authors.initials: XJ
authors.lastname: Shen
authors.forename: Wei
authors.initials: W
authors.lastname: Zhou
authors.forename: Kang
authors.initials: K
authors.lastname: Xiao
authors.forename: Xiao-Mei
authors.initials: XM
authors.lastname: Zhang
authors.forename: Bao-Yun
authors.initials: BY
authors.lastname: Zhang
authors.forename: Xiao-Ping
authors.initials: XP
authors.lastname: Dong
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid; D000368:Aged; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D002681:China; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D038524:Diffusion Magnetic Resonance Imaging; D004569:Electroencephalography / Q000379:methods; D005260:Female; D006801:Humans; D008569:Memory Disorders / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D048948:14-3-3 Proteins; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions
keywords: 14-3-3 protein; Creutzfeldt–Jakob disease; PRNP; V180I; mutation