Article Dans Une Revue Cortex Année : 2019

First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation

Résumé

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.
Fichier principal
Vignette du fichier
S0010945218302648.pdf (470) Télécharger le fichier
Origine Fichiers produits par l'(les) auteur(s)

Dates et versions

hal-02968122 , version 1 (25-10-2021)

Licence

Identifiants

Citer

Louis Cousyn, David Grabli, Danielle Seilhean, Carole Azuar, Camille Huiban, et al.. First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation. Cortex, 2019, 117, pp.407-413. ⟨10.1016/j.cortex.2018.08.014⟩. ⟨hal-02968122⟩
34 Consultations
40 Téléchargements

Altmetric

Partager

More