A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family.
APP
Amyloid-β 42/40 ratio
Early-onset Alzheimer's disease
Neurocognitive disorder
PSEN1 mutation
Journal
Neurobiology of aging
ISSN: 1558-1497
Titre abrégé: Neurobiol Aging
Pays: United States
ID NLM: 8100437
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
07
05
2019
revised:
26
06
2019
accepted:
04
07
2019
pubmed:
11
9
2019
medline:
12
9
2020
entrez:
11
9
2019
Statut:
ppublish
Résumé
In the present study, a novel mutation in the presenilin 1 gene was discovered in an Iraq-native patient with early-onset Alzheimer's disease, who presented with speech impairment and memory decline at age 46 years. Magnetic resonance imaging showed a frontotemporal atrophy. Sanger sequencing identified a heterozygous T to A transversion at position 815 (c.815T>A) in the presenilin 1 gene (PSEN1), resulting in a novel missense mutation at codon 272 from valine to aspartate (V272D). We tested this PSEN1 mutation in vitro and found V272D resulted in an altered Aβ42/40 ratio.
Identifiants
pubmed: 31500908
pii: S0197-4580(19)30204-0
doi: 10.1016/j.neurobiolaging.2019.07.002
pii:
doi:
Substances chimiques
Amyloid beta-Peptides
0
PSEN1 protein, human
0
Peptide Fragments
0
Presenilin-1
0
amyloid beta-protein (1-40)
0
amyloid beta-protein (1-42)
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
154.e5-154.e7Subventions
Organisme : NIA NIH HHS
ID : RF1 AG006173
Pays : United States
Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.