PREDISPOSING LOCUS FOR ALZHEIMER'S DISEASE ON CHROMOSOME 21
Abstract
Linkage between Alzheimer's disease and markers on the long arm of chromosome 21 was investigated in six families affected by disease of early onset. Linkage was confirmed and the disease locus shown to be centromeric to the locus D21S1/S11 on the long arm of the chromosome. It is argued that the data are consistent with the notion that all patients with Alzheimer's disease of genetic aetiology have a predisposing locus on chromosome 21.
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The added copy of APP in trisomy 21 is associated with the early and invariable development of AD pathology in Down syndrome.
“the added copy of APP in trisomy 21 was known to be associated with the early and invariable development of AD pathology in Down syndrome [52].”
From Intraneuronal β-amyloid accumulation and synapse pathology in Alzheimer’s disease (2010) · cites this paper as [52]
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- Authors
- Goate, A., Owen, M., James, L., Mullan, M., Rossor, M., Haynes, A., Farrall, M., Lai, L. C., Roques, P., Williamson, R., & Hardy, J.
- Affiliations
- St Mary's Hospital (GB)
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 1989-02
- Volume
- 333
- Issue
- 8634
- Pages
- 352-355
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2115363308
- Cited by
- 270
- References
- 20
- Citations by year
- 2024: 1 · 2023: 3 · 2022: 2 · 2021: 1 · 2020: 1 · 2019: 1 · 2017: 4 · 2016: 3 · 2015: 18 · 2014: 3 · 2013: 3 · 2012: 2
- FWCI
- 32.80
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, chromosome 21, genetic linkage, early-onset Alzheimer's disease, genetic susceptibility, familial Alzheimer's disease
- MeSH terms
- Adult, Alzheimer Disease, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 21, Female, Humans, Genetic Linkage, Male, Middle Aged, Mutation, Recombination, Genetic, Polymorphism, Restriction Fragment Length, Blotting, Southern, Chromosome Disorders
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