Neurological Sciences

, Volume 30, Issue 5, pp 417–420

Creutzfeldt–Jakob disease with E200K PRNP mutation: a case report and revision of the literature

  • Michelangelo Mancuso
  • Gabriele Siciliano
  • Sabina Capellari
  • Daniele Orsucci
  • Policarpo Moretti
  • Giuseppe Di Fede
  • Silvia Suardi
  • Rosaria Strammiello
  • Piero Parchi
  • Fabrizio Tagliavini
  • Luigi Murri
Case Report

DOI: 10.1007/s10072-009-0118-7

Cite this article as:
Mancuso, M., Siciliano, G., Capellari, S. et al. Neurol Sci (2009) 30: 417. doi:10.1007/s10072-009-0118-7

Abstract

Creutzfeldt–Jakob disease (CJD) is typically characterized by rapidly progressive dementia and myoclonus, and it is caused by a conformational change of the prion protein. The heritable forms are associated with mutation in the gene encoding the prion protein (PRNP). We report a 63-year-old Italian woman harboring the E200K PRNP mutation. Electroencephalogram, cerebrospinal fluid analysis, PRNP gene sequencing, histopathologic examination, immunohistochemical studies, and Western blotting analysis confirmed the diagnosis of CJD. Pyramidal involvement was the first sign and the prominent clinical feature. Later on, she developed also myoclonus, ataxia, spastic tetraplegia, and at last dementia with akinetic mutism. Usually, signs of degeneration of the pyramidal tracts occur in a small number of patients as the disease advances. Our report supports the variability of the clinical expression of the E200K genetic CJD. Further studies are needed to understand the molecular basis underlying the phenotypic variability among patients carrying this mutation.

Keywords

CJDCodon 200PrionsPrPPRNPSpastic tetraparesis

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Michelangelo Mancuso
    • 1
  • Gabriele Siciliano
    • 1
  • Sabina Capellari
    • 2
  • Daniele Orsucci
    • 1
  • Policarpo Moretti
    • 1
  • Giuseppe Di Fede
    • 3
  • Silvia Suardi
    • 3
  • Rosaria Strammiello
    • 2
  • Piero Parchi
    • 2
  • Fabrizio Tagliavini
    • 3
  • Luigi Murri
    • 1
  1. 1.Department of Neuroscience, Neurological ClinicUniversity of PisaPisaItaly
  2. 2.Department of Neurological ScienceUniversity of BolognaBolognaItaly
  3. 3.“C. Besta” National Neurological InstituteVia Celoria 11Italy