title: Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene.
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.
authors.affiliation: Institute of Clinical Neurology, Luigi Sacco Hospital, University of Milan, Via G.B. Grassi 74, 20157 Milan, Italy. francesca.clerici1@unimi.it
authors.forename: F
authors.initials: F
authors.lastname: Clerici
authors.forename: A
authors.initials: A
authors.lastname: Elia
authors.forename: F
authors.initials: F
authors.lastname: Girotti
authors.forename: P
authors.initials: P
authors.lastname: Contri
authors.forename: C
authors.initials: C
authors.lastname: Mariani
authors.forename: F
authors.initials: F
authors.lastname: Tagliavini
authors.forename: G
authors.initials: G
authors.lastname: Di Fede
mesh_terms: D000368:Aged; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D018698:Glutamic Acid / Q000235:genetics*; D006801:Humans; D007558:Italy; D008239:Lysine / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D018698:Glutamic Acid; D008239:Lysine