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

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Neurobiology of aging - 1 Feb 2018

Wang Jen-Chyong, Alinaghi Somayeh, Tafakhori Abbas, Sikora Elizabeth, Azcona Luis J, Karkheiran Siamak, Goate Alison, Paisán-Ruiz Coro, Darvish Hossein

Abstract excerpt

A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In this study, we identified 2 PSEN1 mutations (1 novel and 1 known) in 2 unrelated Iranian families with autosomal-dominant Alzheimer's disease. The disease progressed rapidly with a mean age at onset of 33 and...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Alzheimer Disease

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

Share to Disease Progression

Share to Genes, Dominant

Share to Genetic Association Studies

Share to Genetic Testing

Share to Presenilin-1

Source

Open in PubMed Open full text

Identifiers

PMID: 29175279
DOI: 10.1016/j.neurobiolaging.2017.10.011
PMCID: PMC5743634

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.PMID 29175279Read ↗

Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease.Semantic proximity Read ↗

Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.Semantic proximity Read ↗

Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.Semantic proximity Read ↗

Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.Semantic proximity Read ↗

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

PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.Semantic proximity Read ↗

Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China.Semantic proximity Read ↗

An intronic rare mutation in Presenilin-1 (PSEN-1) gene may be involved in the developement of Alzheimer’s diseaseSemantic proximity Read ↗

Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer's Disease in Korea.Semantic proximity Read ↗

Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s diseaseSemantic proximity Read ↗

Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.Semantic proximity Read ↗

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

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