title: Autopsy case of Creutzfeldt-Jakob disease with Met/Val heterozygosity at codon 129 and type 1 protease-resistant prion protein presenting some florid-type plaques and many Kuru plaques in the cerebellum.
abstract: We report an atypical case of CJD. The clinical course was similar to a classic CJD phenotype, but histopathological study revealed several florid-type plaques in the amygdale and abundant Kuru plaques in the cerebellum that are atypical of classic CJD. Molecular analysis showed methionine/valine heterozygosity at codon 129 and no pathogenic mutation in the coding region of the prion protein gene. Western immunoblots revealed type 1 protease-resistant prion protein (PrPres), and a ration analysis of PrPres showed a high ratio of the diglycosylated form and a low ratio of the non-glycosylated form. Our case could not be precisely classified in any of Parchi's six variants. It suggests the existence of some factors that determine the phenotypic variability other than the codon 129 genotypes in the PrP gene or the physicochemical properties of PrPres.
authors.affiliation: Department of Neurology, Yokohama Miyazaki Hospital of Neurosurgery, Japan. yoko.kawauchi@mbi.nifty.com
authors.forename: Yoko
authors.initials: Y
authors.lastname: Kawauchi
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Kamitani
authors.forename: Saburo
authors.initials: S
authors.lastname: Yagishita
authors.forename: Tetsuyuki
authors.initials: T
authors.lastname: Kitamoto
authors.forename: Hitaru
authors.initials: H
authors.lastname: Kishida
mesh_terms: D001344:Autopsy; D015153:Blotting, Western; D002531:Cerebellum / Q000473:pathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005838:Genotype; D006801:Humans; D007729:Kuru / Q000473:pathology; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D010447:Peptide Hydrolases / Q000378:metabolism; D058225:Plaque, Amyloid / Q000473:pathology*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011328:Prions / Q000235:genetics*; D014633:Valine / Q000235:genetics
chemical_list: D011328:Prions; D008715:Methionine; D010447:Peptide Hydrolases; D014633:Valine