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Start Over Descriptor "14.3.3" Topic creutzfeldt-jakob syndrome
2 results on '"14.3.3"'

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

Author

Cousyn L, Grabli D, Seilhean D, Azuar C, Huiban C, Epelbaum S, Bouaziz-Amar E, Brandel JP, Galanaud D, and Méneret A

Subjects
Adult, Humans, Male, Neuropsychological Tests, Pedigree, Phenotype, Creutzfeldt-Jakob Syndrome genetics, Mutation, Prion Proteins genetics
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., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Published
2019
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2. First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation

Author

Stéphane Epelbaum, Aurélie Méneret, Camille Huiban, Elodie Bouaziz-Amar, Carole Azuar, Jean-Philippe Brandel, Louis Cousyn, David Grabli, Damien Galanaud, Danielle Seilhean, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuropathologie [CHU Pitié Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), Sorbonne Université (SU), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Service de Neuroradiologie [CHU Pitié-Salpêtrière], Service de Neurologie [CHU Pitié-Salpêtrière], and IFR70-CHU Pitié-Salpêtrière [AP-HP]

Subjects
Adult, Male, Disease onset, Cognitive Neuroscience, animal diseases, Experimental and Cognitive Psychology, Disease, Neuropsychological Tests, 050105 experimental psychology, Creutzfeldt-Jakob Syndrome, Prion Proteins, PRNP, 03 medical and health sciences, 14.3.3, 0302 clinical medicine, Cerebrospinal fluid, Genetic, mental disorders, Total Tau Protein, Humans, 0501 psychology and cognitive sciences, Family history, Genetics, Atypical presentation, 05 social sciences, Creutzfeldt-Jakob disease, 3. Good health, Pedigree, nervous system diseases, Neuropsychology and Physiological Psychology, Phenotype, Mutation (genetic algorithm), Mutation, Prnp gene, Psychology, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; 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.

Published
2019
Full Text
View/download PDF

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