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 language | English |
|---|---|
| Pages (from-to) | 145-147 |
| Number of pages | 3 |
| Journal | Journal of the Neurological Sciences |
| Volume | 275 |
| Issue number | 1-2 |
| DOIs | |
| Publication status | Published - Dec 15 2008 |
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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 journal › Article
}
TY - JOUR
T1 - Atypical presentation of Creutzfeldt-Jakob disease
T2 - The first Italian case associated with E196K mutation in the PRNP gene
AU - Clerici, F.
AU - Elia, A.
AU - Girotti, F.
AU - Contri, P.
AU - Mariani, C.
AU - Tagliavini, F.
AU - Di Fede, G.
PY - 2008/12/15
Y1 - 2008/12/15
N2 - 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.
AB - 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.
KW - Creutzfeldt-Jakob disease
KW - Point mutation
KW - Prion protein gene
UR - http://www.scopus.com/inward/record.url?scp=55649105203&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=55649105203&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2008.06.036
DO - 10.1016/j.jns.2008.06.036
M3 - Article
C2 - 18706660
AN - SCOPUS:55649105203
VL - 275
SP - 145
EP - 147
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -