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

Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant.

Alzheimer's research & therapy - 1 Dec 2025

Johansson Charlotte, Rodriguez-Vieitez Elena, Bluma Marina, Nennesmo Inger, Thonberg Håkan, Ullgren Abbe, Jelic Vesna, Zetterberg Henrik, Blennow Kaj, Nordberg Agneta, Graff Caroline

Abstract excerpt

BACKGROUND: Autosomal dominant Alzheimer disease (ADAD) is caused by pathogenic variants in the APP, PSEN1 and PSEN2 genes, but a substantial fraction of reported variants is of unknown clinical significance. Here we report a novel variant in the amyloid precursor protein gene (APP p.I718M). METHODS: Five siblings from a family with a multi-generational history of cognitive disease were assessed for cognitive...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Amyloid beta-Peptides

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Amyloid beta-Protein Precursor

Share to Dementia

Share to Magnetic Resonance Imaging

Share to Positron-Emission Tomography

Share to Siblings

Share to tau Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41327373
DOI: 10.1186/s13195-025-01890-9
PMCID: PMC12670831

Genes

APP
GFAP
PSEN1
PSEN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant.PMID 41327373Read ↗

Gene-variant specific effects of plasma amyloid-β levels in Swedish autosomal dominant Alzheimer disease.Semantic proximity Read ↗

Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2Semantic proximity Read ↗

Clinical, neuropathologic, and biochemical profile of the amyloid precursor protein I716F mutation.Semantic proximity Read ↗

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.Semantic proximity Read ↗

Prominent amyloid plaque pathology and cerebral amyloid angiopathy in APP V717I (London) carrier - phenotypic variability in autosomal dominant Alzheimer's disease.Semantic proximity Read ↗

Plasma biomarker profiles in autosomal dominant Alzheimer’s diseaseSemantic proximity Read ↗

Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.Semantic proximity Read ↗

Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation.Semantic proximity Read ↗

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.Semantic proximity Read ↗

Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort.Semantic proximity Read ↗

Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1.Semantic proximity Read ↗

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 YearsSemantic proximity Read ↗

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