A patient with MV2 subtype of sporadic Creutzfeldt-Jakob disease and atypical clinical presentation

D. Guerrero, N. Martinez-Velilla, M. C. Caballero, M. T. Mendióroz, T. Tuñón, J. Masdeu, A. Rodríguez, J. Armstrong, I. Ferrer

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

We report the case of a 71-year-old woman with progressive dementia over the course of 4 years, characterized by prominent pyramidal signs and by the lack of ataxia and other cerebellar signs. Creutzfeldt-Jakob disease (CJD) was not suspected during the patient's life. Autopsy brain tissue showed severe spongiform encephalopathy with kuru-like, but not florid, plaques in neocortex and cerebellum. Massive synaptic diffuse and plaque-like PrPSc deposition was found in the cerebral cortex, striatum, cerebellum and brainstem. Genetic analysis revealed no PRNP gene mutations and methionine/valine heterozygosity (MV) at codon 129. The pathogenic scrapie prion protein (PrPSc) pattern detected by Western blot was Type 2. However, this pattern showed a single unglycosylated band in contrast to the doublet described for MV2 subtype of sCJD with kuru plaques. In summary, this is an autopsy case report of a particular presentation of MV2 subtype of sCJD.

Original languageEnglish (US)
Pages (from-to)408-413
Number of pages6
JournalClinical neuropathology
Volume27
Issue number6
DOIs
StatePublished - 2008

Keywords

  • Ataxia
  • Case report
  • Prion proteins
  • Sporadic Creutzfeldt Jakob disease
  • Western blot

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neurology

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