Skip to main content

Cognitive Impairment Delayed With Genetic Variant

Medically reviewed by Carmen Pope, BPharm. Last updated on June 20, 2024.

By Elana Gotkine HealthDay Reporter

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.

Yakeel T. Quiroz, Ph.D., from Massachusetts General Hospital in Boston, and colleagues analyzed data from 27 participants with one copy of the APOE3Ch variant among 1,077 carriers of the PSEN1E280A variant, which causes autosomal dominant Alzheimer disease, to estimate the age at onset of cognitive impairment and dementia.

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.

"The clinical, cognitive, neuroimaging, and neuropathological data that we present here provide evidence that APOE3Ch heterozygosity delayed the onset of cognitive impairment in a form of autosomal dominant Alzheimer's disease and may have a protective effect against Alzheimer's disease and neurodegeneration in this population," the authors write.

Abstract/Full Text (subscription or payment may be required)

Editorial (subscription or payment may be required)

Disclaimer: Statistical data in medical articles provide general trends and do not pertain to individuals. Individual factors can vary greatly. Always seek personalized medical advice for individual healthcare decisions.

© 2025 HealthDay. All rights reserved.

Read this next

Intensive BP Reduction Effective for Lowering All-Cause Dementia Risk

TUESDAY, April 29, 2025 -- An intensive blood pressure (BP) reduction intervention is effective for lowering the risk for all-cause dementia among individuals aged 40 years and...

32 Percent of Dementia Attributed to Audiometric Hearing Loss

MONDAY, April 28, 2025 -- The population attributable fraction of dementia from any audiometric hearing loss is 32.0 percent, according to a study published online April 17 in...

Moderately Preterm Birth Tied to Long-Term Cognitive Problems

FRIDAY, April 25, 2025 -- Moderately preterm birth is associated with cognitive problems at ages 9 to 10 years, according to a study published online April 14 in JAMA Network...

More news resources

Subscribe to our newsletter

Whatever your topic of interest, subscribe to our newsletters to get the best of Drugs.com in your inbox.