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

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

The Lancet. Neurology - 1 Dec 2016

Ryan Natalie S, Nicholas Jennifer M, Weston Philip S J, Liang Yuying, Lashley Tammaryn, Guerreiro Rita, Adamson Gary, Kenny Janna, Beck Jon, Chavez-Gutierrez Lucia, de Strooper Bart, Revesz Tamas, Holton Janice, Mead Simon, Rossor Martin N, Fox Nick C

Abstract excerpt

BACKGROUND: The causes of phenotypic heterogeneity in familial Alzheimer's disease with autosomal dominant inheritance are not well understood. We aimed to characterise clinical phenotypes and genetic associations with APP and PSEN1 mutations in symptomatic autosomal dominant familial Alzheimer's disease (ADAD). METHODS: We retrospectively analysed genotypic and phenotypic data (age at symptom onset, initial...

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

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

Share to Amyloid beta-Protein Precursor

Share to PSEN1 gene

Share to Genes, Dominant

Share to Genetic Association Studies

Share to Phenotype

Share to Presenilin-1

Source

Identifiers

PMID: 27777022
DOI: 10.1016/S1474-4422(16)30193-4

Genes

PSEN1
APP
APOE

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

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.PMID 27777022Read ↗

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.Semantic proximity Read ↗

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.Semantic proximity Read ↗

Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.Semantic proximity Read ↗

Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update: Table 1Semantic proximity Read ↗

Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.Semantic proximity Read ↗

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.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 ↗

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

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 YearsSemantic proximity Read ↗

Early-Onset Alzheimer's Disease: What Is Missing in Research?Semantic proximity Read ↗

Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study.Semantic proximity Read ↗

Early-onset familial Alzheimer's disease (EOFAD).Semantic proximity Read ↗

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