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

F. Clerici, A. Elia, F. Girotti, P. Contri, C. Mariani, F. Tagliavini, G. Di Fede

Research output: Contribution to journalArticle

19 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)145-147
Number of pages3
JournalJournal of the Neurological Sciences
Volume275
Issue number1-2
DOIs
Publication statusPublished - Dec 15 2008

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Creutzfeldt-Jakob Syndrome
Mutation
Accidental Falls
Genes
Frontotemporal Dementia
Diagnostic Errors
Dementia
Electroencephalography
Prion Proteins

Keywords

  • Creutzfeldt-Jakob disease
  • Point mutation
  • Prion protein gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Atypical presentation of Creutzfeldt-Jakob disease : The first Italian case associated with E196K mutation in the PRNP gene. / Clerici, F.; Elia, A.; Girotti, F.; Contri, P.; Mariani, C.; Tagliavini, F.; Di Fede, G.

In: Journal of the Neurological Sciences, Vol. 275, No. 1-2, 15.12.2008, p. 145-147.

Research output: Contribution to journalArticle

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