MM2-cortical-type sporadic Creutzfeldt-Jakob disease with early stage cerebral cortical pathology presenting with a rapidly progressive clinical course

Neuropathology. 2008 Dec;28(6):645-51. doi: 10.1111/j.1440-1789.2008.00904.x. Epub 2008 Apr 10.

Abstract

We report the case of a 67-year-old man with MM2-cortical-type sporadic Creutzfeldt-Jakob disease (sCJD) with a rapidly progressive clinical course of 5 months. Initial symptoms were progressive memory disturbance and dementia. MRI revealed high signal-intensity lesions on diffusion-weighted images in the bilateral frontal and occipital cortices. Myoclonus and periodic sharp-wave complexes on the electroencephalogram were observed in the early disease stage. The clinical diagnosis was typical sCJD. Neuropathologic examination at autopsy showed widespread, characteristic cerebral neocortical involvement with large confluent vacuole-type spongiform change. Spongiform degeneration was also evident in the striatum and medial thalamus. In the cerebellar cortex, slight depletion of Purkinje neurons was evident without spongiform change in the molecular layer or apparent neuron loss in the granule cell layer. The inferior olivary nucleus showed slight hypertrophic astrocytosis without neuron loss. Prion protein (PrP) immunostaining showed widespread, characteristic perivacuolar-type PrP deposits with irregular plaque-like PrP deposits in the cerebral neocortex, striatum and medial thalamus. We believe this patient showed early-stage cerebral cortical pathology of MM2-cortical-type sCJD, which may provide clues regarding the pathologic progression of this rare sCJD subtype. Although MM2-cortical-type sCJD generally shows slow progression without myoclonus or periodic sharp-wave complexes, the present patient showed a rapidly progressive clinical course similar to that of MM1-type sCJD.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Blotting, Western
  • Brain / pathology
  • Brain Chemistry
  • Cerebral Cortex / chemistry
  • Cerebral Cortex / pathology*
  • Creutzfeldt-Jakob Syndrome / pathology*
  • Creutzfeldt-Jakob Syndrome / physiopathology*
  • Electroencephalography
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Neurodegenerative Diseases / pathology
  • Neurodegenerative Diseases / physiopathology
  • Prions / analysis
  • Prions / genetics
  • Tomography, Emission-Computed, Single-Photon

Substances

  • Prions