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

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

European journal of neurology - 1 Dec 2007

Sánchez-Valle R, Lladó A, Ezquerra M, Rey M J, Rami L, Molinuevo J L

Abstract excerpt

The aim of this study was to describe a novel mutation in exon 8 of the presenilin gene (L286P) associated with early-onset autosomal dominant Alzheimer's disease (AD) and lobar haematomas. The proband was a woman who developed cognitive decline with predominant memory loss at the age of 35 years...

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 Alzheimer Disease
Share to Cerebral Amyloid Angiopathy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebral Arteries

Share to Cerebral Hemorrhage

Share to Fatal Outcome

Share to Mutation, Missense

Share to Presenilin-1

Source

Identifiers

PMID: 18028191
DOI: 10.1111/j.1468-1331.2007.01988.x

Genes

PSEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18028191-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.PMID 18028191Read ↗

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.Semantic proximity Read ↗

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

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy.Semantic proximity Read ↗

A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression.Semantic proximity Read ↗

A Novel Presenilin-1 Mutation (Leu85Pro) in Early-Onset Alzheimer Disease With Spastic ParaparesisSemantic proximity Read ↗

Late-onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation.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 ↗

A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.Semantic proximity Read ↗

Clinical and Molecular Findings in a Turkish Family Who Had a (c.869- 1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis.Semantic proximity Read ↗

A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.Semantic proximity Read ↗

Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.Semantic proximity Read ↗

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

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