title: Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt-Jakob disease.
abstract: Creutzfeldt-Jakob disease (CJD) is a rare and rapidly progressive neurodegenerative disease of the central nervous system, which may occur in inherited, acquired (variant and iatrogenic), or spontaneous (sporadic) forms. We report a 76-year-old Chinese man with CJD found to have a novel mutation in the prion protein gene (PRNP). The 14-3-3 protein was positive in the cerebrospinal fluid; diffusion-weighted MRI revealed ribbon-like high signal intensity in the bilateral cortices; and electroencephalography showed typical periodic synchronous discharge. CJD was diagnosed based on characteristic clinical manifestations. Interestingly, a point mutation of PRNP at codon 196 (E196A: GAG→GCG) was detected. In conclusion, we identified a patient with CJD with a novel PRNP mutation, which expands the spectrum of PRNP mutations in CJD.
authors.affiliation: Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China.
authors.forename: Hongliang
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China; Department of Neurology, Tengzhou Central People's Hospital, Tengzhou, China.
authors.forename: Meibo
authors.initials: M
authors.lastname: Wang
authors.affiliation: Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China; Neuroprotection Research Laboratory, Massachusetts General Hospital, Harvard Medical School, MA, USA.
authors.forename: Limin
authors.initials: L
authors.lastname: Wu
authors.affiliation: Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China.
authors.forename: Haining
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Jin
authors.affiliation: Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China.
authors.forename: Jiang
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Neurology, First Hospital of Jilin University, 71 Xinmin Street, Changchun 130021, China. Electronic address: sjnksunli@163.com.
authors.forename: Li
authors.initials: L
authors.lastname: Sun
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid; D000368:Aged; D003062:Codon / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D017354:Point Mutation; D011328:Prions / Q000235:genetics*
chemical_list: D048948:14-3-3 Proteins; D003062:Codon; D011328:Prions
keywords: Codon 196; Creutzfeldt–Jakob disease; Mutation; Prion