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A novel phenotype of sporadic Creutzfeldt-Jakob disease

G Giaccone1, Giuseppe Di Fede, Michela Mangieri

  • 1Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, Milan, 20133, Italy.

BMJ Case Reports
|June 21, 2011
PubMed

Insights

This study details an unusual case of sporadic Creutzfeldt-Jakob disease (CJD) in a 78-year-old woman, revealing a novel prion protein (PrP) phenotype.

Area of Science:

  • Neurology
  • Prion Diseases
  • Molecular Biology

Background:

  • Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder.
  • Understanding the diverse phenotypes of sCJD is crucial for diagnosis and research.
  • Genetic factors, like prion protein (PrP) gene codon 129 polymorphism, influence disease presentation.

Purpose of the Study:

  • To describe an atypical case of sporadic Creutzfeldt-Jakob disease.
  • To characterize the unique neuropathological and molecular features of this case.
  • To identify a novel phenotype within sporadic CJD.

Main Methods:

  • Case report of a 78-year-old female patient.
  • Neuropathological examination including PrP immunohistochemistry.
  • Western blot analysis of brain tissue to detect PrP(Sc) glycoform profile.

Main Results:

  • The patient was homozygous for methionine at PrP gene codon 129.
  • Neuropathology revealed widespread PrP immunoreactive plaque-like deposits.
  • Western blot showed an unrecognised PrP(Sc) profile, lacking diglycosylated protease-resistant species.

Conclusions:

  • This case represents a novel neuropathological and molecular phenotype of sporadic CJD.
  • The findings expand the spectrum of prion protein aggregation and detection in sCJD.
  • Further research is needed to understand the implications of this distinct CJD subtype.

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