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

Journal of the Neurological Sciences
F ClericiGiuseppe Di Fede

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.

References

Dec 29, 1999·Human Mutation· Kazazian Jr HH

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Citations

Jan 13, 2016·Journal of Alzheimer's Disease : JAD·Emanuela OldoniDaniela Galimberti
Jan 15, 2011·Neurobiology of Aging·Gabi SchelzkeInga Zerr
Dec 17, 2009·Clinical Neurology and Neurosurgery·Yannick BéjotMaurice Giroud
Feb 5, 2011·Journal of Neuropathology and Experimental Neurology·Sabina EigenbrodHans A Kretzschmar
Apr 14, 2012·Journal of Magnetic Resonance Imaging : JMRI·Laurent Letourneau-GuillonWalter Kucharczyk
May 9, 2014·Alzheimer Disease and Associated Disorders·Amalia C BruniLivia Bernardi
Jul 26, 2019·International Journal of Molecular Sciences·Livia Bernardi, Amalia C Bruni
Oct 1, 2020·International Journal of Molecular Sciences·Hajar Miranzadeh Mahabadi, Changiz Taghibiglou
Sep 4, 2009·The Journal of Physical Chemistry. B·Norifumi Yamamoto, Kazuo Kuwata

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