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The pathological process of Alzheimer disease (AD) begins before the clinical symptoms manifest. To identify the timing and stages of this process, researchers examined biological markers of AD in 128 individuals who had a parent with dominantly inherited AD (carriers of the APP, PSEN1, or PSEN2 gene mutation). The researchers tested the participants for carrier status of the relevant gene. Using the affected parent's age at onset and the participant's age at assessment, the researchers estimated the years to symptom onset and identified correlations with biological and clinical AD parameters.
Of the 128 participants, 88 were AD gene carriers (mean age at assessment, 39). Levels of amyloid-beta (Aβ)42 in the cerebrospinal fluid (CSF) appeare…