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Long-duration sCJD with PRNP codon 129 methionine homozygosity and cerebral cortical plaques

Raymond Yen-Yu Lo1, Woei Cherng Shyu, Hung Li

  • 1Department of Neurology, Neuro-Medical Scientific Center, Buddhist Tzu-Chi General Hospital, Tzu-Chi University, Hualien, Taiwan.

Neurology
|May 19, 2006
PubMed

Insights

This study details the longest-known case of MM-type sporadic Creutzfeldt-Jakob disease (sCJD) in a 40-year-old woman, characterized by slow-onset ataxia and dementia. Despite normal CSF 14-3-3 protein and EEG, MRI revealed occipital lobe abnormalities, highlighting a rare presentation with kuru-type plaques.

Area of Science:

  • Neuroscience
  • Neurology
  • Prion Diseases

Background:

  • Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, fatal neurodegenerative disorder.
  • MM-type sCJD is the most common subtype, but typically progresses rapidly.
  • Longer disease durations are unusual, making prolonged cases valuable for study.

Observation:

  • A 40-year-old woman presented with ataxia and dementia.
  • Symptoms showed minimal progression over 40 months.
  • Cerebrospinal fluid (CSF) 14-3-3 protein and electroencephalogram (EEG) were unremarkable.

Findings:

  • Brain magnetic resonance imaging (MRI) revealed increased signal intensity in the occipital cortex on diffusion-weighted imaging.
  • The patient exhibited cortical kuru-type plaques.
  • This represents the longest documented case of MM-type sporadic Creutzfeldt-Jakob disease with this specific pathological feature.

Implications:

  • This case expands the known clinical spectrum and progression patterns of MM-type sCJD.
  • It underscores the importance of advanced neuroimaging in diagnosing atypical prion diseases.
  • Understanding prolonged sCJD progression may offer insights into disease mechanisms and potential therapeutic targets.

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