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

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

Neuroscience letters - 1 Jan 2016

Tedde Andrea, Bartoli Antonella, Piaceri Irene, Ferrara Sara, Bagnoli Silvia, Serio Antonio, Sorbi Sandro, Nacmias Benedetta

Abstract excerpt

Alzheimer's disease (AD) is a neurodegenerative disease affecting over 20 million people worldwide, mainly adult subjects in advanced age. Over 240 different fully penetrant autosomal dominant mutations in 532 families around the world have been described in three genes [i.e., amyloid precursor protein (APP), and presenilins (PSEN1 and PSEN2)] causing 50% of all Familial AD. We report a new mutation (p.Ile408Thr,...

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 Aged

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

Share to Aged, 80 and over

Share to Alzheimer Disease

Share to PSEN2 gene

Share to Mutation

Share to Pedigree

Share to Presenilin-1

Source

Identifiers

PMID: 26549787
DOI: 10.1016/j.neulet.2015.11.004

Genes

PSEN1
APP
PSEN2

Variants

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

Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease.PMID 26549787Read ↗

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

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

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

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

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

Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr)Semantic proximity Read ↗

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.Semantic proximity Read ↗

A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease.Semantic proximity Read ↗

Identification of a Pathogenic PSEN1 Ala285Val Mutation Associated with Early-Onset Alzheimer's Disease.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 ↗

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