Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum.
ALS (amyotrophic lateral sclerosis)
Portuguese
cohort
frontotemporal dementia
phenotype
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2022
2022
Historique:
received:
28
02
2022
accepted:
31
05
2022
entrez:
25
7
2022
pubmed:
26
7
2022
medline:
26
7
2022
Statut:
epublish
Résumé
Frontotemporal dementia (FTD) is considered to be part of a continuum with amyotrophic lateral sclerosis (ALS). Many genes are associated with both ALS and FTD. Yet, many genes associated with ALS have not been shown to cause FTD. We aimed to study a Portuguese cohort of FTD patients, searching for variants in genes associated with both FTD and/or ALS. We included 57 thoroughly characterized index FTD patients from our memory clinic, who were not carriers of pathogenic variants in We identified 13 rare missense variants in 10 patients (three patients had two variants) in the following genes: We report, for the first time, an expanded study of genes known to cause FTD-ALS, in the Portuguese population. Potentially pathogenic variants in
Identifiants
pubmed: 35873773
doi: 10.3389/fneur.2022.886379
pmc: PMC9300853
doi:
Types de publication
Journal Article
Langues
eng
Pagination
886379Informations de copyright
Copyright © 2022 Tábuas-Pereira, Santana, Gibbons, Paquette, Almeida, Baldeiras, Bras and Guerreiro.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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