Cited by 102Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

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Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

Beck, J. A.·2004·Human Molecular Genetics

DOI 10.1093/hmg/ddh134

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Abstract

Alzheimer's disease (AD) is the commonest neurodegenerative disease worldwide. Rare familial cases may be caused by mutations in one of three genes-amyloid precursor protein, presenilin-1 and presenilin-2; however, the molecular basis of >99% of AD cases is unknown. Somatic mutation has been considered to be a mechanism that may account for a proportion of sporadic cases of AD, but to date there has been no evidence for this. We now report a sporadic early-onset patient with AD, and show that this individual is a somatic mosaic for a mutation in the presenilin-1 gene, suggesting a novel molecular mechanism for AD. Quantification of the mosaicism demonstrated the degree of mosaicism at 8% in peripheral lymphocytes and 14% in cerebral cortex in the index patient; a clear gene dosage effect on age of presentation and clinical phenotypic presentation is demonstrated. This finding has important implications for the aetiology of sporadic AD, and for other apparently sporadic neurodegenerative diseases such as Parkinson's disease, motor neuron disease and Creutzfeldt-Jakob disease.

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Authors: Beck, J. A.
Affiliations: MRC Prion Unit (GB)
Corresponding author: Beck, J. A.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2004-04-28
Volume: 13
Issue: 12
Pages: 1219-1224
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddh134
OpenAlex: W2109880206
Cited by: 102
References: 19
Citations by year: 2026: 3 · 2025: 2 · 2024: 1 · 2023: 5 · 2022: 8 · 2021: 7 · 2020: 8 · 2019: 4 · 2018: 10 · 2017: 6 · 2016: 4 · 2015: 10 · 2014: 5 · 2013: 5 · 2012: 2
FWCI: 1.24
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
HighWire Press Open Archive (submittedVersion)
Funders: Medical Research Council
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: Alzheimer's disease, somatic mosaicism, germline mosaicism, presenilin 1, presenilin 2, amyloid precursor protein, somatic mutations, gene dosage effect, age of onset, cerebral cortex, lymphocytes
MeSH terms: Adult, Alzheimer Disease, Base Sequence, Female, Humans, Male, Membrane Proteins, Middle Aged, Mosaicism, Pedigree, Age of Onset, Germ-Line Mutation, Presenilin-1

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Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

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