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Creutzfeldt-Jakob disease.

Yasushi Iwasaki1

  • 1Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.

Neuropathology : Official Journal of the Japanese Society of Neuropathology
|December 29, 2016
PubMed
Summary

This review details Creutzfeldt-Jakob disease (CJD) clinical and pathological findings. Early spongiform changes precede clinical onset, with DWI MRI reflecting these pathologies, aiding diagnosis in typical and atypical CJD cases.

Keywords:
akinetic mutism statediffusion-weighted magnetic resonance imagingmyoclonuspanencephalopathic-typepyramidal sign

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Area of Science:

  • Neurology
  • Pathology
  • Neuroimaging

Background:

  • Creutzfeldt-Jakob disease (CJD) is a rapidly progressive neurodegenerative prion disease.
  • Understanding the correlation between clinical, imaging, and pathological findings is crucial for diagnosis.

Purpose of the Study:

  • To review and correlate the clinical, pathological, and neuroimaging findings across various forms of Creutzfeldt-Jakob disease (CJD).
  • To elucidate the temporal relationship between pathological changes and clinical presentation.

Main Methods:

  • Review of clinical presentations, including cognitive decline, myoclonus, and akinetic mutism.
  • Analysis of neuropathological hallmarks: spongiform changes, gliosis, neuron loss, and prion protein (PrP) deposition.
  • Correlation with diffusion-weighted magnetic resonance imaging (DWI) findings.

Main Results:

  • Clinical CJD features include rapid cognitive decline, DWI hyperintensities, myoclonus, and EEG abnormalities.
  • Neuropathology reveals spongiform changes (early), gliosis, neuropil rarefaction, neuron loss, and PrP deposition.
  • DWI hyperintensities correlate with spongiform changes; larger vacuoles and Type 2 PrPSc show greater DWI signal.

Conclusions:

  • Clinical, neuroimaging, and neuropathological findings are well-matched in CJD, aiding diagnosis.
  • While typical CJD (e.g., MM1-type) is clinically straightforward, atypical forms also show diagnostic correlations.
  • Accurate diagnosis of CJD is achievable by integrating clinical, imaging, and pathological data.