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[A case of Creutzfeldt-Jakob disease with codon 129 polymorphism and codon 180 point mutation]

Kazunari Suzuki1, Noriaki Matsumura, Tatsuya Suzuki

  • 1Division of Geriatric Medicine, Nippon Medical School.

Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
|March 12, 2008
PubMed

Insights

This study details a rare case of Creutzfeldt-Jakob disease (CJD) in a Japanese man with a unique prion protein gene mutation. The patient initially misdiagnosed with Alzheimer's disease highlights diagnostic challenges in rare neurological disorders.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative prion disease.
  • Genetic mutations in the prion protein (PrP) gene are associated with CJD.
  • Diagnostic challenges exist, especially in atypical presentations.

Observation:

  • A 79-year-old Japanese man presented with rapidly progressing neurological decline.
  • Initial diagnosis was Alzheimer's disease with cerebrovascular disease based on SPECT imaging.
  • Electroencephalogram did not show characteristic periodic synchronous discharges.

Findings:

  • Prion protein gene analysis revealed a combination of codon 129 polymorphism (Met/Val) and codon 180 point mutation (Val/Ile).
  • Autopsy confirmed spongiform changes and senile plaques in the cerebral cortex.
  • The hippocampus and cerebellar cortex were preserved, with no lacunar infarctions.

Implications:

  • This case highlights the diagnostic difficulty of CJD, particularly with co-occurring genetic variations.
  • The specific PrP gene mutation combination (codon 180 and 129) is rarely reported, adding to the understanding of CJD's genetic landscape.
  • Further research into genotype-phenotype correlations in CJD is warranted for improved diagnosis and management.

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