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 novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.

Neurogenetics - 1 Oct 2002

Bertoli Avella A M, Marcheco Teruel B, Llibre Rodriguez J J, Gomez Viera N, Borrajero Martinez I, Severijnen E A, Joosse M, van Duijn C M, Heredero Baute L, Heutink P

Abstract excerpt

We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members within six generations, the proband descended from a Spanish founder. Mean age at onset was 59 years of age. Memory impairment was the main symptom in all patients, additionally, ischemic episodes were described in 4 (n = 18) patients. Neuropathological examination of brain material (1 patient) revealed neuronal loss,...

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 Apolipoproteins E

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

Share to Conserved Sequence

Share to Family Health

Share to Hispanic or Latino

Share to Point Mutation

Share to Presenilin-1

Source

Identifiers

PMID: 12484344
DOI: 10.1007/s10048-002-0136-6

Genes

PSEN1

Variants

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

A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.PMID 12484344Read ↗

Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.Semantic proximity Read ↗

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

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

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

Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.Semantic proximity Read ↗

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

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

Novel Presenilin 1 Mutations Associated With Early Onset of Dementia in a Family With Both Early-Onset and Late-Onset Alzheimer DiseaseSemantic proximity Read ↗

F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease.Semantic proximity Read ↗

A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease.Semantic proximity Read ↗

A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.Semantic proximity Read ↗

Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene.Semantic proximity Read ↗

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