Extensive cortical spongiform changes with cerebellar small amyloid plaques: The clinicopathological case of MV2K+C subtype in Creutzfeldt-Jakob disease

Kunihiko Araki, Yuta Nakano, Atsushi Kobayashi, Takashi Matsudaira, Akira Sugiura, Masaki Takao, Tetsuyuki Kitamoto, Shigeo Murayama, Tomokazu Obi

Research output: Contribution to journalArticle

Abstract

We report a clinical case report of the MV2K+C subtype of sporadic Creutzfeldt-Jakob disease (sCJD). The patient was a 72-year-old woman who exhibited progressive dementia over the course of 22 months. Diffusion-weighted MRI during this period showed abnormal hyperintensity in the cerebral cortex in the early stage. The clinical course was similar to that of previously reported patients with the MV2K or MV2K+C subtype of sCJD. However, histopathological examination revealed unique features: severe extensive spongiform changes with perivacuolar deposits in the cerebrum and basal ganglia, plaque-like PrP deposits in the cerebrum, and only mild changes in the cerebellum with small amyloid plaques (∼20μm in diameter), smaller than those in the MV2K subtype or variant CJD (40-50μm in diameter). Molecular analysis showed a methionine/valine heterozygosity at codon 129 and no pathogenic mutation in the PrP gene (PRNP). Western blot analysis of the protease-resistant PrP (PrP Sc ) in the right temporal pole revealed the type 2 pattern, which is characterized by a single unglycosylated band, in contrast to the doublet described for the typical MV2 subtype of sCJD. The other intermediate band might exist in the cerebellum with kuru plaques. Therefore, small amyloid plaques in the cerebellum can be crucial for MV2K+C subtype.

Original languageEnglish
Pages (from-to)541-546
Number of pages6
JournalNeuropathology
Volume34
Issue number6
DOIs
Publication statusPublished - 2014 Dec 1

Keywords

  • Cerebellum
  • Creutzfeldt-Jakob disease
  • MV2K+C
  • Single unglycosylated band
  • Small amyloid plaques

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Extensive cortical spongiform changes with cerebellar small amyloid plaques: The clinicopathological case of MV2K+C subtype in Creutzfeldt-Jakob disease'. Together they form a unique fingerprint.

  • Cite this