WOMAN DONATED HER BRAIN TO SCIENCE—ALZHEIMER'S EXPERTS SHOCKED BY DISCOVERY

Newsweek Exclusive Feature

The woman had defied the disease despite her brain pathology, revealing new clues to cognitive preservation.

For 10 years, a woman with Down syndrome defied what many scientists believed to be an inevitability. Despite carrying the neuropathological hallmarks of Alzheimer's disease—amyloid beta plaques and neurofibrillary tangles by her 40s—she remained cognitively stable until her death in her 60s.

Her case, recently highlighted in Alzheimer's & Dementia: The Journal of the Alzheimer's Association, has opened new doors in understanding the potential for resilience against Alzheimer's, not only for individuals with Down syndrome, but possibly for the broader population as well.

The woman had participated in the Alzheimer Biomarker Consortium—Down Syndrome Research Study led by Elizabeth Head, a professor in the Department of Pathology and Laboratory Medicine at the University of California, Irvine. She had decided to donate her brain to investigators so that research into its neuropathology could be continued following her death.

After she passed away, her brain was examined at the University of Pittsburgh's 7T Bioengineering Research Program, where Jr-Jiun Liou, a postdoctoral scholar in the Department of Bioengineering, conducted high-resolution imaging using a 7 Tesla MRI scanner.

The findings were startling. MRI imaging revealed substantial Alzheimer's pathology—yet all clinical assessments conducted over years of study indicated that the woman was cognitively stable and functioning well.

This stark contrast between her biological pathology and her cognitive condition is now prompting scientists to rethink the relationship between neuropathology and cognitive decline.

"We are grateful to the woman and her family of the gift for brain donation," Head told Newsweek. "This case study gives us real hope to unlock approaches to deliver this type of resilience for all those with or at risk for cognitive impairment due to Alzheimer's disease."

Aging adults with Down syndrome accumulate a significant neuropathology burden indicating Alzheimer's by 40, and most people with the syndrome develop mild cognitive impairment by the age of 56.

Despite these statistics, the woman who carried a neuropathology indicating Alzheimer's so large that at her age it would see 90 percent of people with Down syndrome develop dementia, remained without symptoms until her death.

"Most people with Down syndrome, who have a genetic form of Alzheimer's, develop learning and memory problems by their mid 50s along with brain changes of Alzheimer's disease by the time they are in their 40s," Head said. "It was remarkable to see a person escape the learning and memory changes yet still have brain changes."

The investigators believe that the woman may have been able to compensate for her "Alzheimer's disease brain changes" due to protective genes, or her lifestyle and its academic enrichments.

"Before she passed away, all the clinical assessments in our years of studying her indicated that she was cognitively stable, which is why this case is so fascinating," Liou said in a statement. "Despite her brain's pathology indicating Alzheimer's, we think that her cognitive stability could have been attributed to her high education level or underlying genetic factors."

Research Into the Woman's Brain

Studies have shown that people with Down syndrome have a greater risk of developing dementia caused by Alzheimer's disease as they age. In most cases, this risk translates into a near certainty of cognitive decline by middle age.

"We are interested in trying to link neuroimaging with neuropathology, because we want to use information from neuropathology datasets to inform diagnostic and therapeutic criteria for individuals with Down syndrome before they pass away," Liou said.

Head emphasized the potential impact of this discovery for broader Alzheimer's research.

"If we can identify the genetic underpinnings or lifestyle factors that allowed her brain to function well despite the pathology, we may uncover strategies that could benefit others," Head said in a statement. "This study shows how just one person's participation in research can lead to profound discoveries."

Liou and Head are now advocating for more inclusive criteria in therapeutic trials targeting Alzheimer's disease. Current trials often exclude individuals with Down syndrome or those with "atypical" pathology. Broadening this criteria could help identify subgroups of patients who, like the woman in this study, might benefit from treatments.

The data also presents an opportunity to uncover the genetic or lifestyle factors that may contribute to keeping one's cognitive function healthy—insights that could benefit not only individuals with Down syndrome, but the broader population too.

As researchers continue to analyze the data, the hope is to uncover more about the factors that shielded the woman's cognition, and, in time, translate those insights into new diagnosis and treatment plans for Alzheimer's and similar neurodegenerative diseases.

"We have made wonderful progress and feel we are on the precipice of even more learning that will have huge impact for public health if we continue to invest in research," Head said.

She added: "Our study highlights how even one person can have a significant impact on helping us find a treatment for Alzheimer's disease."

The study was established in 2015 with the goal of identifying biomarkers of Alzheimer's in people with Down syndrome. The woman had been followed for nine years in two National Institutes of Health–funded longitudinal studies of Alzheimer's in Down syndrome before enrolling in the study.

Reference

Liou, J.-J., Lou, J., Flores-Aguilar, L., Nakagiri, J., Yong, W., Hom, C. L., Doran, E. W., Totoiu, M. O., Lott, I., Mapstone, M., Keator, D. B., Brickman, A. M., Wright, S. T., Nelson, B., Lai, F., Xicota, L., Dang, L.-H. T., Li, J., Santini, T., Mettenburg, J. M., Ikonomovic, M. D., Kofler, J., Ibrahim, T., & Head, E. (2025). A neuropathology case report of a woman with Downsyndrome who remained cognitively stable: Implications for resilience to neuropathology. Alzheimer's & Dementia, 21. https://doi.org/10.1002/alz.14479

THANK YOU FOR READING

COVER IMAGE CREDIT: GETTY IMAGES

READ THE FULL STORY HERE: https://www.newsweek.com/woman-down-syndrome-defies-alzheimers-2038829