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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.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

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

doi

10.1016/j.jns.2008.06.036

subject

Has Abstract

pub_date

2008-12-15 00:00:00

pages

145-7

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(08)00313-4

journal_volume

275

pub_type

杂志文章

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