Alleles
Brain
/ diagnostic imaging
Cerebral Amyloid Angiopathy
/ diagnosis
Cognitive Dysfunction
/ diagnosis
DNA Mutational Analysis
Genetic Association Studies
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Models, Molecular
Mutation
Phenotype
Presenilin-1
/ chemistry
Protein Conformation
CAA
NGS
PSEN1
cerebral amyloid angiopathy
compound heterozygous mutations
next-generation sequencing
splice variant
stop-gain variant
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
08 Apr 2021
08 Apr 2021
Historique:
received:
16
03
2021
revised:
02
04
2021
accepted:
07
04
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
25
5
2021
Statut:
epublish
Résumé
Cerebral amyloid angiopathy (CAA) is a cerebrovascular disorder caused by the deposition of amyloid beta-peptide (Aβ) aggregates. Aβ aggregates lead to vessel rupture and intracerebral hemorrhages, detected by magnetic resonance imaging (MRI). Presenile CAA is usually genetically determined by mutations in the amyloid precursor protein (
Identifiants
pubmed: 33918046
pii: ijms22083870
doi: 10.3390/ijms22083870
pmc: PMC8069161
pii:
doi:
Substances chimiques
PSEN1 protein, human
0
Presenilin-1
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
Circ Res. 2017 Feb 3;120(3):573-591
pubmed: 28154105
Neurol Sci. 2012 Apr;33(2):375-8
pubmed: 21822699
Nat Rev Neurol. 2020 Jan;16(1):30-42
pubmed: 31827267
Nat Biotechnol. 2011 Jan;29(1):24-6
pubmed: 21221095
J Neurol. 1995 Sep;242(9):557-60
pubmed: 8551316
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Am J Pathol. 2001 Jun;158(6):2165-75
pubmed: 11395394
J Clin Med. 2018 Dec 22;8(1):
pubmed: 30583522
J Alzheimers Dis. 2012;30(4):847-56
pubmed: 22475797
Curr Opin Psychiatry. 2016 Mar;29(2):168-73
pubmed: 26779861
Clin Imaging. 2021 Jun;74:45-54
pubmed: 33434866
Eur J Neurol. 2020 Dec;27(12):2630-2634
pubmed: 32894632
Bioinformatics. 2019 Jun 1;35(11):1978-1980
pubmed: 30376034