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 presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.

Neuroscience letters - 30 Sept 2004

Hattori Sayoko, Sakuma Kenji, Wakutani Yosuke, Wada Kenji, Shimoda Masaru, Urakami Katsuya, Kowa Hisanori, Nakashima Kenji

Abstract excerpt

Early onset familial Alzheimer's disease with spastic paraparesis (FAD-SP) has been associated with mutations of the presenilin 1 gene (PSEN1). We report a pedigree of FAD-SP due to a novel missense mutation of PSEN1 (Y154N). The symptoms of the proband were characterized by presenile dementia in...

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 Asparagine
Share to Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Paraparesis, Spastic

Share to Pedigree

Share to Presenilin-1

Share to Tyrosine

Source

Identifiers

PMID: 15364419
DOI: 10.1016/j.neulet.2004.07.057

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15364419-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.PMID 15364419Read ↗

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

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

Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis.Semantic proximity Read ↗

Spastic paraparesis linked to a rare presenilin-1 mutation.Semantic proximity Read ↗

A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.Semantic proximity Read ↗

Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.Semantic proximity Read ↗

[Early-onset familial Alzheimer's disease with spastic paraparesis associated with PSEN1 gene].Semantic proximity Read ↗

A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer’s disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSFSemantic proximity Read ↗

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

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

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

The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.Semantic proximity Read ↗

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