First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation.
14.3.3
Atypical presentation
Creutzfeldt-Jakob disease
Genetic
PRNP
Journal
Cortex; a journal devoted to the study of the nervous system and behavior
ISSN: 1973-8102
Titre abrégé: Cortex
Pays: Italy
ID NLM: 0100725
Informations de publication
Date de publication:
08 2019
08 2019
Historique:
received:
24
06
2018
revised:
14
08
2018
accepted:
22
08
2018
pubmed:
30
9
2018
medline:
2
10
2020
entrez:
30
9
2018
Statut:
ppublish
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.
Identifiants
pubmed: 30266397
pii: S0010-9452(18)30264-8
doi: 10.1016/j.cortex.2018.08.014
pii:
doi:
Substances chimiques
PRNP protein, human
0
Prion Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
407-413Informations de copyright
Copyright © 2018 Elsevier Ltd. All rights reserved.