First European case of Creutzfeldt-Jakob Disease with a PRNP G114V Mutation

Publication date: Available online 1 September 2018

Source: Cortex

Author(s): Louis Cousyn, David Grabli, Danielle Seilhean, Carole Azuar, Camille Huiban, Stéphane Epelbaum, Elodie Bouaziz-Amar, Jean-Philippe Brandel, Damien Galanaud, Aurélie Méneret

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.

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