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People with Down syndrome (DS), caused by trisomy 21, face an elevated risk for development of Alzheimer disease (AD), as they have high levels of amyloid beta (Aβ), due to overexpression of the gene for amyloid precursor protein on chromosome 21. Diagnosing AD in patients with DS is difficult because of the absence of accepted diagnostic biomarkers. To learn more, researchers conducted a cross-sectional study of 388 adult patients with DS from Spain and the U.K. and 242 euploid, cognitively normal controls.
Included patients had mild or moderate intellectual disability, as measured with the Cambridge Cognitive Examination for Older Adults with Down Syndrome, and information on at least one AD biomarker (apolipoprotein E allele status; plasm…