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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)417-420
Number of pages4
JournalNeurological Sciences
Volume30
Issue number5
DOIs
Publication statusPublished - 2009

Keywords

  • CJD
  • Codon 200
  • Prions
  • PRNP
  • PrP
  • Spastic tetraparesis

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

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