An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology

Hidenori Yoshida, Seishi Terada, Hideki Ishizu, Kenji Ikeda, Toshiyuki Hayabara, Kazuyo Ikeda, Kazushi Deguchi, Tetsuo Touge, Tetsuyuki Kitamoto, Shigetoshi Kuroda

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

We report an autopsy case of Creutzfeldt-Jakob disease with a codon 180 point mutation of the prion protein gene (PRNP). A 77-year-old woman developed gait instability, followed by dementia and limb/truncal ataxia. She became akinetic and mute 18 months and died of pneumonia 26 months after the disease onset. Analysis of the PRNP gene revealed a codon 180 point mutation. Post-mortem examination revealed marked spongiosis, neuronal loss, and astrocytic gliosis in the cerebral cortex. Mild to moderate spongiosis and neuronal loss were observed in the limbic cortex and basal ganglia. There was no spongiform change in the hippocampus, brain stem or cerebellum. Many senile plaques and neurofibrillary tangles were found, and the Braak stages were stage C and stage IV, respectively. Immunostaining for prion protein (PrP) revealed granular (synaptic-type) and patchy PrP deposition in the cerebral cortex and especially in the hippocampus. Most patchy PrP deposits were colocalized with amyloid β plaques, but some of them were isolated. The relatively strong PrP deposition and coexistence of Alzheimer-type pathology of this case are remarkable. We suppose that amyloid β plaques might act as a facilitating factor for PrP deposition.

Original languageEnglish
Pages (from-to)159-164
Number of pages6
JournalNeuropathology
Volume30
Issue number2
DOIs
Publication statusPublished - Apr 2010

Fingerprint

Creutzfeldt-Jakob Syndrome
Autopsy
Pathology
Mutation
Amyloid Plaques
Genes
Ataxia
Point Mutation
Codon
Cerebral Cortex
Hippocampus
Neurofibrillary Tangles
Gliosis
Prion Proteins
Basal Ganglia
Gait
Cerebellum
Brain Stem
Dementia
Pneumonia

Keywords

  • Creutzfeldt-Jakob disease
  • Histopathology
  • Prion proteins
  • Senile plaques
  • V180I mutation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology

Cite this

An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology. / Yoshida, Hidenori; Terada, Seishi; Ishizu, Hideki; Ikeda, Kenji; Hayabara, Toshiyuki; Ikeda, Kazuyo; Deguchi, Kazushi; Touge, Tetsuo; Kitamoto, Tetsuyuki; Kuroda, Shigetoshi.

In: Neuropathology, Vol. 30, No. 2, 04.2010, p. 159-164.

Research output: Contribution to journalArticle

Yoshida, H, Terada, S, Ishizu, H, Ikeda, K, Hayabara, T, Ikeda, K, Deguchi, K, Touge, T, Kitamoto, T & Kuroda, S 2010, 'An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology', Neuropathology, vol. 30, no. 2, pp. 159-164. https://doi.org/10.1111/j.1440-1789.2009.01048.x
Yoshida, Hidenori ; Terada, Seishi ; Ishizu, Hideki ; Ikeda, Kenji ; Hayabara, Toshiyuki ; Ikeda, Kazuyo ; Deguchi, Kazushi ; Touge, Tetsuo ; Kitamoto, Tetsuyuki ; Kuroda, Shigetoshi. / An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology. In: Neuropathology. 2010 ; Vol. 30, No. 2. pp. 159-164.
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