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

[New mutation in the PSEN1 (E120G) gene associated with early onset Alzheimer's disease].

Neurologia (Barcelona, Spain) - 1 Jan 2000

Lladó A, Sánchez-Valle R, Rey M J, Mercadal P, Almenar C, López-Villegas D, Fortea J, Molinuevo J L

Abstract excerpt

OBJECTIVE: To describe a novel mutation in exon 5 of the presenilin 1 gene (E120G)associated with early-onset autosomal dominant Alzheimer's disease (AD). PATIENT AND METHODS: The proband was a man who began with memory loss and progressive cognitive decline at the age of 34. His father and his sister suffered from early-onset cognitive decline. The genetic study performed on the blood sample using the single...

Read the complete abstract on PubMed

Topics

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

Share to Alzheimer Disease
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to PSEN2 gene

Share to Molecular Sequence Data

Share to Mutation

Share to Presenilin-1

Source

Identifiers

PMID: 20388456

Genes

PSEN1
APP
PSEN2

Variants

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

[New mutation in the PSEN1 (E120G) gene associated with early onset Alzheimer's disease].PMID 20388456Read ↗

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

A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.Semantic proximity Read ↗

[Mutation analysis of presenilin 1 gene in a Chinese family affected with early-onset familial Alzheimer's disease].Semantic proximity Read ↗

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

A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease.Semantic proximity Read ↗

Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.Semantic proximity Read ↗

Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene.Semantic proximity Read ↗

Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.Semantic proximity Read ↗

Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.Semantic proximity Read ↗

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

Clinical presentation of early-onset Alzheimer's disease as a result of mutation in exon 12 of the PSEN-1 gene.Semantic proximity Read ↗

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