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

Atypical dementia associated with a novel presenilin-2 mutation.

Annals of neurology - 1 Dec 2003

Binetti Giuliano, Signorini Simona, Squitti Rosanna, Alberici Antonella, Benussi Luisa, Cassetta Emanuele, Frisoni Giovanni Battista, Barbiero Laura, Feudatari Enrica, Nicosia Francesca, Testa Cristina, Zanetti Orazio, Gennarelli Massimo, Perani Daniela, Anchisi Davide, Ghidoni Roberta, Rossini Paolo Maria

Abstract excerpt

We describe an Italian pedigree with hereditary dementia associated with a novel T122R mutation in the presenilin-2 gene (PSEN2). The clinical history, symptom presentation, and structural neuroimaging were consistent with an atypical form of dementia. Disease expression varied within family members. One in a pair of mutated monozygotic twins had evident signs of disease, whereas the other did not, even if her...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Dementia
Share to PSEN2 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mutation

Share to Pedigree

Share to Presenilin-2

Source

Identifiers

PMID: 14681895
DOI: 10.1002/ana.10760

Genes

PSEN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical dementia associated with a novel presenilin-2 mutation.PMID 14681895Read ↗

A novel PSEN2 mutation associated with a peculiar phenotype.Semantic proximity Read ↗

Familial Alzheimer's disease sustained by presenilin 2 mutations: systematic review of literature and genotype-phenotype correlation.Semantic proximity Read ↗

PSEN2 Mutations May Mimic Frontotemporal Dementia: Two New Case Reports and a Systematic ReviewSemantic proximity Read ↗

Case Report of a 63-Year-Old Patient With Alzheimer Disease and a Novel Presenilin 2 Mutation.Semantic proximity Read ↗

Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer's Disease.Semantic proximity Read ↗

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrantSemantic proximity Read ↗

A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.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 ↗

The Utility of Next-Generation Sequencing for Identifying the Genetic Basis of Dementia.Semantic proximity Read ↗

Monogenic determinants of familial Alzheimer's disease: presenilin-2 mutations.Semantic proximity Read ↗

Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.Semantic proximity Read ↗

Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation.Semantic proximity Read ↗

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