title: Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene.
abstract: We report a Japanese patient with Creutzfeldt-Jakob disease (CJD) with a V203I homozygous mutation of the prion protein gene (PRNP). A 73-year-old woman developed rapidly progressive gait disturbance and cognitive dysfunction. Four months after the onset, she entered a state of an akinetic mutism. Gene analysis revealed a homozygous V203I mutation in the PRNP. Familial CJD with a V203I mutation is rare, and all previously reported cases had a heterozygous mutation showing manifestations similar to those of typical sporadic CJD. Although genetic prion diseases with homozygous PRNP mutations often present with an earlier onset and more rapid clinical course than those with heterozygous mutations, no difference was found in clinical phenotype between our homozygous case and reported heterozygous cases.
authors.affiliation: a Department of Neurology and Neurobiology of Aging ; Kanazawa University Graduate School of Medical Sciences ; Kanazawa , Japan.
authors.forename: Junji
authors.initials: J
authors.lastname: Komatsu
authors.forename: Kenji
authors.initials: K
authors.lastname: Sakai
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Hamaguchi
authors.forename: Yu
authors.initials: Y
authors.lastname: Sugiyama
authors.forename: Kazuo
authors.initials: K
authors.lastname: Iwasa
authors.forename: Masahito
authors.initials: M
authors.lastname: Yamada
mesh_terms: D000368:Aged; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D011328:Prions / Q000235:genetics*
chemical_list: D011328:Prions
keywords: CJD, Creutzfeldt-Jakob disease; CSF, cerebrospinal fluid; Creutzfeldt-Jakob disease; EEG, electroencephalography; MRI, magnetic resonance imaging; PRNP, prion protein gene; PrP, prion protein; PrPSc, scrapie prion protein; V203I; fCJD, familial CJD; homozygote; prion protein gene (PRNP); sCJD, sporadic CJD