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

Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene.

Journal of neuropathology and experimental neurology - 1 Mar 2004

Marcon Gabriella, Giaccone Giorgio, Cupidi Chiara, Balestrieri Matteo, Beltrami Carlo Alberto, Finato Nicoletta, Bergonzi Paolo, Sorbi Sandro, Bugiani Orso, Tagliavini Fabrizio

Abstract excerpt

Presenilin 1 and 2 are 2 highly homologous genes involved in familial Alzheimer disease. While more than 100 mutations in presenilin 1 are known to segregate with the disease in familial Alzheimer disease, only 9 mutations of presenilin 2 have been identified to date. We report the clinical and neuropathological phenotype of FLO10, the large Italian Alzheimer kindred associated with methionine to valine...

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 Cerebral Cortex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Choristoma

Share to Nerve Fibers, Myelinated

Share to Neurofibrillary Tangles

Share to Plaque, Amyloid

Share to Presenilin-2

Source

Identifiers

PMID: 15055444
DOI: 10.1093/jnen/63.3.199

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

Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene.PMID 15055444Read ↗

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

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

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

Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene.Semantic proximity Read ↗

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

Atypical dementia associated with a novel presenilin-2 mutation.Semantic proximity Read ↗

Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).Semantic proximity Read ↗

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

Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V.Semantic proximity Read ↗

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

Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype.Semantic proximity Read ↗

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