Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype.

International journal of molecular sciences - 8 Apr 2021

Palmieri Ilaria, Valente Marialuisa, Farina Lisa Maria, Gana Simone, Minafra Brigida, Zangaglia Roberta, Pansarasa Orietta, Sproviero Daisy, Costa Alfredo, Pacchetti Claudio, Pichiecchio Anna, Gagliardi Stella, Cereda Cristina

Abstract excerpt

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 (APP) gene. However, mutations after codon 200 in the presenilin 1 (PSEN1)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Cerebral Amyloid Angiopathy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cognitive Dysfunction

Share to High-Throughput Nucleotide Sequencing

Share to Magnetic Resonance Imaging

Share to Models, Molecular

Share to Presenilin-1

Share to Protein Conformation

Source

Open in PubMed Open full text

Identifiers

PMID: 33918046
DOI: 10.3390/ijms22083870
PMCID: PMC8069161

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype.PMID 33918046Read ↗

Novel insights into presenilin 1 mutation associated with a distinctive dementia phenotype and cotton wool plaques.Semantic proximity Read ↗

Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.Semantic proximity Read ↗

A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.Semantic proximity Read ↗

A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.Semantic proximity Read ↗

A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer’s disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSFSemantic proximity Read ↗

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.Semantic proximity Read ↗

Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy.Semantic proximity Read ↗

A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy.Semantic proximity Read ↗

A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.Semantic proximity Read ↗

Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease.Semantic proximity Read ↗

[Alzheimer disease: autosomal dominant forms].Semantic proximity Read ↗

AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.