Atypical presentation of Creutzfeldt-Jakob disease : the first Italian case associated with E196K mutation in the PRNP gene
Articolo
Data di Pubblicazione:
2008
Citazione:
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. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - 275:1-2(2008), pp. 145-147.
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Creutzfeldt-Jakob disease; Point mutation; Prion protein gene
Elenco autori:
F. Clerici, A. Elia, F. Girotti, P. Contri, C. Mariani, F. Tagliavini, G. Di Fede
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