An autopsied case of panencephalopathic-type Creutzfeldt-Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein

Tetsuo Hama, Yasushi Iwasaki, Hisayoshi Niwa, Mari Yoshida, Yoshio Hashizume, Tetsuyuki Kitamoto, Nobuyuki Murakami, Gen Sobue

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

In this study, we describe the clinicopathologic findings in a 68-year-old man with panencephalopathic-type CJD with a substitution from methionine to arginine at codon 232 (M232R) in the prion protein (PrP) gene and type 1 PrP. Initial symptoms of the patient were a rapidly progressive memory disturbance and disorientation. The patient showed myoclonus and periodic sharp-wave complexes on electroencephalogram in the early stages of disease. Diffusion-weighted MRI along with the presence of both neuron-specific enolase and 14-3-3 protein in the CSF showed similarities to classic-type sporadic CJD. The patient reached the akinetic mutism state 2 months following the onset of symptoms and died after 13 months. Neuropathologic examination revealed panencephalopathic-type CJD pathology including widespread neuron loss with severe hypertrophic astrocytosis and status spongiosus in the cerebral gray matter, particularly in the neocortex. Cerebral white matter and the cerebellum also showed severe involvement. Immunohistochemical staining for PrP showed diffuse gray matter staining, indicating synaptic-type PrP deposition without plaque-type. Two different clinical phenotypes of M232R CJD were recognized despite the presence of the same PrP genotype, and the present case is speculated to correspond to the rapid-type.

Original languageEnglish
Pages (from-to)727-734
Number of pages8
JournalNeuropathology
Volume29
Issue number6
DOIs
Publication statusPublished - 2009 Dec

Keywords

  • Codon 232
  • Creutzfeldt-Jakob disease
  • MM1-type
  • Panencephalopathic-type
  • Prion protein gene

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology

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