Progressive phonagnosia in a telephone operator carrying a C9orf72 expansion.
C9orf72
Frontotemporal lobar degeneration
Person knowledge
Phonagnosia
Selective vulnerability
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:
11 2020
11 2020
Historique:
received:
30
08
2019
revised:
21
02
2020
accepted:
13
05
2020
pubmed:
23
9
2020
medline:
22
6
2021
entrez:
22
9
2020
Statut:
ppublish
Résumé
Selectivity is the rule, rather than the exception, in neurodegenerative disease. A retired telephone operator carrying a C9orf72 expansion developed phonagnosia, a selective impairment of voice recognition, contrasting with intact person knowledge and recognition of faces, as a presenting sign of genetically confirmed fronto-temporal dementia. Since the dysfunction in this patient fell into his area of professional expertise, we discuss if overload in voice related neural networks might have caused failure propagating to connected nodes. The interaction with downstream molecular events, triggered by the C9orf72 expansion, may have led to breakdown at the network level, leading to this specific phenotype.
Identifiants
pubmed: 32961393
pii: S0010-9452(20)30295-1
doi: 10.1016/j.cortex.2020.05.022
pii:
doi:
Substances chimiques
C9orf72 Protein
0
C9orf72 protein, human
0
Banques de données
ClinicalTrials.gov
['NCT02363062']
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
92-98Informations de copyright
Copyright © 2020 Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest Nothing to report. Publicly archived anonymised public study data or digital study materials are not available for ethical reasons, but readers seeking access to the data can contact the lead author. No part of the study procedures or analysis plans was preregistered in an institutional registry prior to the research being conducted.