THURSDAY, June 20, 2024 -- Cognitive impairment is delayed among persons who are heterozygous for the apolipoprotein E3 Christchurch variant (APOE3Ch), according to a study published in the June 20 issue of the New England Journal of Medicine. The researchers found that the median age at onset of cognitive impairment was 52 years versus 47 years among carriers of PSEN1E280A who were heterozygous for the APOE3Ch variant compared with those without the APOE3Ch variant. 18F-fluorodeoxyglucose positron-emission tomographic imaging in two participants with PSEN1E280A and APOE3Ch variants showed relatively preserved metabolic activity in areas typically involved in Alzheimer disease. In one participant, tau findings were limited compared with persons with PSEN1E280A in whom cognitive impairment occurred at the typical age. Compared with autopsy material obtained from persons who had the PSEN1E280A variant but not the APOE3Ch variant, fewer vascular amyloid pathologic features were seen in persons with PSEN1E280A and APOE3Ch variants. Abstract/Full Text (subscription or payment may be required)
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