Down syndrome (DS) is the largest genetically determined form of early-onset Alzheimer disease (AD). Adults with DS develop AD pathology by 40 years of age mainly because of overexpression of the APP gene on chromosome 21 that results in the early accumulation of amyloid-β (Aβ) plaques and cerebral amyloid angiopathy followed by tau pathology, neuroinflammation, and brain atrophy.1 The age at which people with DS convert to AD-related cognitive impairment varies from younger than 50 years to older than 70 years.2 However, little is known regarding biomarkers that may help to identify the age at onset of cognitive decline during this preclinical phase of AD in DS.
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Lemere CA, Head E, Holtzman DM. APOE ε4 Association With Cognition and Alzheimer Disease Biomarkers in Down Syndrome—Implications for Clinical Trials and Treatments for All. JAMA Neurol. Published online July 06, 2021. doi:10.1001/jamaneurol.2021.1649
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