Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene

J Neurol Sci. 2008 Dec 15;275(1-2):145-7. doi: 10.1016/j.jns.2008.06.036. Epub 2008 Aug 15.

Abstract

Genetic Creutzfeldt-Jakob disease (gCJD) is caused by a range of mutations in the prion protein gene (PRNP). We describe the first Italian case of gCJD associated with the rare PRNP E196K mutation. The disease showed an atypical presentation featuring dementia without motor signs in a 75-year-old woman. The case lacked both a known family history of a similar neurological disease and the typical EEG pattern; it was misdiagnosed as frontotemporal dementia. The present case emphasizes that vigilance must be kept high to avoid missing gCJD cases falling outside a typical phenotypical presentation and a known family history, especially in the elderly, in whom an alternative, more common, but incorrect diagnosis may be made.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Creutzfeldt-Jakob Syndrome / pathology
  • DNA Mutational Analysis / methods
  • Female
  • Glutamic Acid / genetics*
  • Humans
  • Italy
  • Lysine / genetics*
  • Magnetic Resonance Imaging
  • Prion Proteins
  • Prions / genetics*

Substances

  • PRNP protein, human
  • Prion Proteins
  • Prions
  • Glutamic Acid
  • Lysine