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 case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer's dementia supported by structure prediction.

Clinical interventions in aging - 1 Jan 2017

Park Kyung Won, An Seong Soo, Bagyinszky Eva, Kim SangYun

Abstract excerpt

A 49-year-old Korean male patient with dementia was diagnosed with probable early-onset Alzheimer's disease (AD). He presented with memory problems, personality changes, and disorientation. His family history of dementia was probably negative, since no family member with dementia was found or mentioned. Mild cortical atrophy was observed upon magnetic resonance imaging analyses of his brain, and the single-photon...

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 Asia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MAPT gene

Share to PSEN1 gene

Share to PSEN2 gene

Share to Genetic Testing

Share to Mutation

Share to Presenilin-2

Source

Open in PubMed Open full text

Identifiers

PMID: 28243073
DOI: 10.2147/CIA.S128884
PMCID: PMC5315209

Genes

PSEN2
APP
MAPT
PRNP
PSEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer's dementia supported by structure prediction.PMID 28243073Read ↗

Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction.Semantic proximity Read ↗

Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.Semantic proximity Read ↗

A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer's Disease.Semantic proximity Read ↗

PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.Semantic proximity Read ↗

Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.Semantic proximity Read ↗

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

Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.Semantic proximity Read ↗

Analysis of Alzheimer's disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods.Semantic proximity Read ↗

PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort.Semantic proximity Read ↗

Differential effects of PSEN1 mutations (p.P117L with ataxia and p.P264L without ataxia) in early-onset Alzheimer's disease.Semantic proximity Read ↗

A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.Semantic proximity Read ↗

Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2Semantic proximity Read ↗

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