Cited by 353Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

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Clinical Features of Early-Onset Alzheimer Disease in a Large Kindred With an E280A Presenilin-1 Mutation

Lopera, Francisco·1997·JAMA: The Journal of the American Medical Association

DOI 10.1001/jama.1997.03540340027028

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Abstract

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 family interviews and through medical or civil records. Using standard diagnostic criteria, a case series of 128 individuals was identified, of which 6 have definitive (autopsy-proven) early-onset AD, 93 have probable early-onset AD, and 29 have possible early-onset AD. SETTING: Community based in Antioquia, Colombia. PATIENTS: A population-based sample in which all members of 5 extended families (nearly 3000 individuals) were surveyed. Criteria for inclusion required obtaining sufficient information to categorize the individual as affected. MAIN OUTCOME MEASURES: Age at onset, neuropsychological profile, neurologic history, and examination. RESULTS: The patients had a mean age at onset of 46.8 years (range, 34-62 years). The average interval until death was 8 years. Headache was noted in affected individuals significantly more frequently than in those not affected. The most frequent presentation was memory loss followed by behavior and personality changes and progressive loss of language ability. In the final stages, gait disturbances, seizures, and myoclonus were frequent. CONCLUSIONS: Other than the early onset, this clinical phenotype is indistinguishable from sporadic AD except that affected individuals frequently complained of headache preceding and during the disease. Despite the uniform genetic basis for the disease, there was significant variability in the age at onset, suggesting an important role for environmental factors or genetic modifiers in determining the age at onset.

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Authors: Lopera, F.
Affiliations: Universidad de Antioquia (CO)
Corresponding author: Lopera, Francisco
ORCID: Lopera, Francisco
Venue: JAMA: The Journal of the American Medical Association
Publisher: American Medical Association (AMA)
Published: 1997-03-12
Volume: 277
Issue: 10
Pages: 793
ISSN: 0002-9955 (ISSN-L)
0098-7484
DOI: 10.1001/jama.1997.03540340027028
OpenAlex: W2110985141
Cited by: 351
References: 52
Citations by year: 2026: 5 · 2025: 13 · 2024: 19 · 2023: 17 · 2022: 8 · 2021: 14 · 2020: 16 · 2019: 16 · 2018: 13 · 2017: 13 · 2016: 19 · 2015: 22 · 2014: 21 · 2013: 14 · 2012: 23
FWCI: 6.03
Type: journal article
Language: en
Open access: closed
Locations: JAMA (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Keywords: early-onset Alzheimer's disease, presenilin 1, PSEN1 E280A mutation, familial Alzheimer's disease, clinical phenotype, age of onset, headache, memory loss, behavioral and personality changes, language loss, gait disturbance, seizures, myoclonus, genetic modifiers, extended family
MeSH terms: Adult, Alanine, Alzheimer Disease, Autopsy, Brain, Codon, Female, Headache, Humans, Male, Membrane Proteins, Middle Aged, Neuropsychological Tests, Pedigree, Phenotype, Point Mutation, Age of Onset, Glutamic Acid, Presenilin-1

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Clinical Features of Early-Onset Alzheimer Disease in a Large Kindred With an E280A Presenilin-1 Mutation

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