A patient with dementia with Lewy bodies and codon 232 mutation of PRNP

Neurology. 2002 Nov 26;59(10):1619-21. doi: 10.1212/01.wnl.0000033796.33205.b4.

Abstract

The authors describe a patient who had a point mutation at codon 232 of the prion protein gene, resulting in the substitution of methionine for arginine (M232R). The patient developed dementia and died 6 years after its onset. Autopsy revealed dementia with Lewy bodies, not Creutzfeldt-Jakob disease. Although the M232R mutation has been reported to cause Creutzfeldt-Jakob disease, findings in our patient suggest that not all patients presenting progressive dementia with M232R mutation have Creutzfeldt-Jakob disease.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution / genetics
  • Amyloid / genetics*
  • Brain / diagnostic imaging
  • Brain / pathology
  • Codon / genetics
  • Creutzfeldt-Jakob Syndrome / genetics
  • Creutzfeldt-Jakob Syndrome / pathology
  • Humans
  • Lewy Body Disease / diagnostic imaging
  • Lewy Body Disease / genetics*
  • Lewy Body Disease / pathology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Point Mutation / genetics*
  • Prion Proteins
  • Prions
  • Protein Precursors / genetics*
  • Tomography, Emission-Computed, Single-Photon

Substances

  • Amyloid
  • Codon
  • PRNP protein, human
  • Prion Proteins
  • Prions
  • Protein Precursors