Abstract
Down syndrome and autosomal dominant Alzheimer's disease are genetically determined forms of dementia.1 Three causative genes associated with autosomal dominant Alzheimer's disease implicate amyloid β (Aβ) as a key player in disease pathogenesis: PSEN1, PSEN2, and APP. Similarly, Alzheimer's disease in people with Down syndrome is primarily driven by the dose effect of having an extra copy of the APP gene, which is coded in the triplicated chromosome 21.1 These conditions, therefore, with their near-full penetrance, offer unique opportunities to study the pathophysiology of Alzheimer's disease and to conduct prevention trials.
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