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MM1-type sporadic Creutzfeldt-Jakob disease with unusually prolonged disease duration presenting with

Akira Hoshino1, Yasushi Iwasaki, Masayuki Izumi

  • 1Department of Neurology, Aichi Medical University School of Medicine, Aichi, Japan.

Neuropathology : Official Journal of the Japanese Society of Neuropathology
|February 6, 2008
PubMed

Insights

This case study details an MM1-type sporadic Creutzfeldt-Jakob disease (sCJD) patient with a record 58-month duration. The slow progression and preserved brainstem highlight unique neuropathological findings in this prion disease.

Area of Science:

  • Neurology
  • Neuroscience
  • Pathology

Background:

  • Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal neurodegenerative prion disease.
  • MM1-type sCJD is the most common subtype, typically presenting with a shorter disease duration.
  • Unusually prolonged disease courses offer insights into disease mechanisms and variability.

Observation:

  • An autopsy case of MM1-type sCJD with a 58-month disease duration, significantly longer than typical.
  • Initial symptoms included progressive mental disorder and cognitive decline, with myoclonus appearing late at 17 months.
  • Electroencephalogram showed periodic sharp-wave complexes at 21 months, and akinetic mutism at 29 months.
  • MRI revealed progressive cerebral atrophy.
  • Neuropathology demonstrated widespread spongiform changes, astrocytosis, and neuron loss in the cerebral cortex, indicative of panencephalopathic-type sCJD.
  • The brainstem was relatively spared, potentially contributing to the prolonged survival.

Findings:

  • The case represents the longest reported disease duration for MM1-type sCJD.
  • Prion protein (PrP) immunohistochemistry revealed widespread synaptic-type deposits in the cortex, hippocampus, and thalamus.
  • Genetic analysis confirmed methionine homozygosity at codon 129 (MM) and Western blot identified type 1 PrP.
  • The neuropathological findings, particularly the panencephalopathic changes and relative brainstem preservation, correlate with the prolonged clinical course.

Implications:

  • This case expands the known spectrum of clinical and pathological variability in MM1-type sCJD.
  • Understanding factors contributing to prolonged disease duration is crucial for disease management and future therapeutic strategies.
  • Further research into the neuropathological correlates of extended survival in prion diseases is warranted.

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