A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome
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Frances K Wiseman Tamara Al-Janabi John Hardy Annette Karmiloff-Smith Dean Nizetic Victor Tybulewicz Elizabeth MC Fisher André StrydomAbstract
Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP)--an Alzheimer disease risk factor--although the possession of extra copies of other chromosome 21 genes may also play a part. Further study of the mechanisms underlying the development of Alzheimer disease in people with Down syndrome could provide insights into the mechanisms that cause dementia in the general population.
Journal details
Journal Nature Reviews Neuroscience
Volume 16
Issue number 9
Pages 564-574
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Publisher website (DOI) 10.1038/nrn3983
Europe PubMed Central 26243569
Pubmed 26243569
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