Credit score: College of Pittsburgh
Research reveal that individuals with Down syndrome (DS) have over a 90% lifetime threat of creating dementia attributable to Alzheimer’s illness (AD) as they age. Analysis from the College of Pittsburgh’s Swanson College of Engineering goals may uncover why some folks with DS develop dementia whereas others don’t— offering perception that would in the end profit the complete DS group.
“A Neuropathology Case Report of a Woman with Down Syndrome who Remained Cognitively Stable: Implications for Resilience to Neuropathology,” a brand new publication in Alzheimer’s & Dementia, discovered an surprising Alzheimer’s illness development in an girl with Down syndrome.
For ten years, a lady with Down syndrome participated within the Alzheimer Biomarker Consortium—Down syndrome Analysis Research (ABC-DS) with a staff of investigators together with Elizabeth Head, professor within the division of pathology and laboratory medication on the College of California, Irvine. On the time of her passing, investigators have been grateful for her present of mind donation, and her mind was shared with the College of Pittsburgh’s 7T Bioengineering Analysis Program radiofrequency analysis facility, the place Jr-Jiun Liou, postdoctoral scholar within the division of bioengineering, imaged her mind utilizing the staff’s high-resolution 7 Tesla MRI scanner.
“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 stated.
The ultimate neuroimages that Liou reviewed stunned her. Though the participant was cognitively steady on the time of loss of life, MRI imaging revealed the presence of neuropathology indicative of Alzheimer’s illness in her mind. This discovering highlighted a discrepancy between her lived expertise and scientific analysis in comparison with her underlying organic pathology.
“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 stated. “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.”
Liou and Head hope that this case examine will assist enhance present diagnostic instruments and broaden the inclusion standards for therapeutic drug trials concentrating on Alzheimer’s illness and dementia. Scientific trials sometimes have slim standards for acceptance, but when extra people with this sort of “hidden” pathology for Alzheimer’s are included, the remedies may change into more practical.
The information additionally presents a uncommon alternative to uncover genetic or life-style elements which will contribute to cognitive preservation—insights that would in the end profit not solely people with Down syndrome however the broader inhabitants.
“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 stated. “This study shows how just one person’s participation in research can lead to profound discoveries.”
Extra info:
Jr‐Jiun Liou et al, A neuropathology case report of a lady with Down syndrome who remained cognitively steady: Implications for resilience to neuropathology, Alzheimer’s & Dementia (2025). DOI: 10.1002/alz.14479
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Down syndrome case challenges Alzheimer’s assumptions with surprising cognitive stability (2025, March 1)
retrieved 1 March 2025
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