First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation. (August 2019)

• Record Type: Journal Article
• Authors: Cousyn, Louis; Grabli, David; Seilhean, Danielle; Azuar, Carole; Huiban, Camille; Epelbaum, Stéphane; Bouaziz-Amar, Elodie; Brandel, Jean-Philippe; Galanaud, Damien; Méneret, Aurélie
• Is Part Of: Cortex. Volume 117(2019)
• Page Start: 407
• Page End: 413
• Publication Date: 2019-08
• Subjects: Creutzfeldt-Jakob disease -- Genetic -- PRNP -- Atypical presentation -- 14.3.3; MRI magnetic resonance imaging -- CSF cerebrospinal fluid -- EEG electroencephalogram; Neuropsychology -- Periodicals; Nervous system -- Periodicals; Neurology -- Periodicals; Psychophysiology -- Periodicals; Behavior -- Periodicals; Neurology -- Periodicals; 612.825
• DOI: 10.1016/j.cortex.2018.08.014
• Languages: English
• ISSNs: 0010-9452

Abstract

Abstract: Genetic Creutzfeldt-Jakob disease is due to mutations in the PRNP gene. Only two families with a PRNP G114V mutation have been described around the world. We report the first European case, who had no family history and initially presented with isolated deficit in hippocampus-dependent memory. Initial investigations were normal except for elevated total tau protein in the cerebrospinal fluid. He died 4 years after disease onset. This case highlights the diagnostic difficulties posed by genetic Creutzfeldt-Jakob disease, and shows that genetic analyses should be considered even in sporadic cases.