Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.

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Article

Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.

JAMA - 12 Mar 1997

Lopera F, Ardilla A, Martínez A, Madrigal L, Arango-Viana J C, Lemere C A, Arango-Lasprilla J C, Hincapíe L, Arcos-Burgos M, Ossa J E, Behrens I M, Norton J, Lendon C, Goate A M, Ruiz-Linares A, Rosselli M, Kosik K S

Abstract excerpt

OBJECTIVES: To characterize clinical features of a very large pedigree with early-onset Alzheimer disease (AD) in which all affected individuals carry the identical glutamic acid-to-alanine mutation at codon 280 in the presenilin-1 gene. DESIGN: Clinical histories were obtained by patient and fam...

Topics

Adult
Age of Onset
Alanine
Alzheimer Disease
Autopsy
Brain
Codon
Female
Glutamic Acid
Headache
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Middle Aged

Neuropsychological Tests

Pedigree

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 9052708

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9052708-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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