Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Alzheimer’s disease
early onset Alzheimer disease
genetic heterogeneity
mutation screening
next generation sequencing
Journal
Frontiers in aging neuroscience
ISSN: 1663-4365
Titre abrégé: Front Aging Neurosci
Pays: Switzerland
ID NLM: 101525824
Informations de publication
Date de publication:
2022
2022
Historique:
received:
15
06
2022
accepted:
02
08
2022
entrez:
22
9
2022
pubmed:
23
9
2022
medline:
23
9
2022
Statut:
epublish
Résumé
Early-onset Alzheimer's disease (EOAD) is the most common form of early-onset dementia. Although three major genes have been identified as causative, the genetic contribution to the disease remains unsolved in many patients. Recent studies have identified pathogenic variants in genes representing a risk factor for developing Alzheimer's disease (AD) and in causative genes for other degenerative dementias as responsible for EOAD. To study them further, we investigated a panel of candidate genes in 102 Italian EOAD patients, 45.10% of whom had a positive family history and 21.74% with a strong family history of dementia. We found that 10.78% of patients carried pathogenic or likely pathogenic variants, including a novel variant, in
Identifiants
pubmed: 36133075
doi: 10.3389/fnagi.2022.969817
pmc: PMC9484406
doi:
Types de publication
Journal Article
Langues
eng
Pagination
969817Informations de copyright
Copyright © 2022 Bartoletti-Stella, Tarozzi, Mengozzi, Asirelli, Brancaleoni, Mometto, Stanzani-Maserati, Baiardi, Linarello, Spallazzi, Pantieri, Ferriani, Caffarra, Liguori, Parchi and Capellari.
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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