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

Yoko Kawauchi, Toshiaki Kamitani, Saburo Yagishita, Tetsuyuki Kitamoto, Hitaru Kishida

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)313-317
Number of pages5
JournalNeuropathology
Volume26
Issue number4
DOIs
Publication statusPublished - 2006 Aug

Keywords

  • Codon 129
  • Creutzfeldt-Jakob disease
  • Florid-type plaque
  • Kuru plaque
  • Type 1 protease-resistant prion protein

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology

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