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 and genetic analysis of a Chilean family with early-onset autosomal dominant Alzheimer's disease.

Journal of Alzheimer's disease : JAD - 1 Jan 2010

Sinning Mariana, van Rooyen Jan Piere, Venegas-Francke Pablo, Vásquez Carolina, Behrens María Isabel, Ramírez Alfredo

Abstract excerpt

Autosomal dominant early-onset Alzheimer's disease (ADEOAD) is associated predominantly with mutations in the genes that codify for presenilin 1 (PSEN1). Only a few ADEOAD families have been reported from Latin America. This is an extended Chilean pedigree affected by ADEOAD along 4 generations. The age of onset of dementia was between 38 and 42 years. Early manifestations were anxiety and depression. Mutation...

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 About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to PSEN1 gene

Share to Mutation

Share to Pedigree

Share to Presenilin-1

Source

Identifiers

PMID: 20571222
DOI: 10.3233/JAD-2010-100135

Genes

PSEN1

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

Clinical and genetic analysis of a Chilean family with early-onset autosomal dominant Alzheimer's disease.PMID 20571222Read ↗

Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients.Semantic proximity Read ↗

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.Semantic proximity Read ↗

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.Semantic proximity Read ↗

A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.Semantic proximity Read ↗

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

Genetic analysis of Vietnamese patients with early-onset Alzheimer's disease.Semantic proximity Read ↗

Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr)Semantic proximity Read ↗

A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.Semantic proximity Read ↗

Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease.Semantic proximity Read ↗

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

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.Semantic proximity Read ↗

Clinical and Molecular Findings in a Turkish Family Who Had a (c.869- 1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis.Semantic proximity Read ↗

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