Alzheimer's patient with Down syndrome avoided dementia
March 06, 2025
IN THE NEWS: A woman with Down syndrome showed no signs of cognitive decline well into her 60s despite having all the physiological hallmarks of Alzheimer's disease, according to a consortium of researchers co-led by UC Irvine neuroscientists.
The case study by the Alzheimer Biomarker Consortium — Down Syndrome, reported this week in the online publication ScienceAlert, may help scientists better understand the progression of the disease in people with Down syndrome yet remain relatively sharp mentally.
"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," said Elizabeth Head, PhD, a member of the UC Irvine team of Alzheimer's researchers who have spearheaded efforts to follow people with Down syndrome and their siblings.
"This study shows how just one person's participation in research can lead to profound discoveries."
Most people with Down syndrome develop the beta amyloid plaques in the brain, a characteristic of Alzheimer’s disease, by the time they turn 40. Scientists believe it is because they have a third copy of chromosome 21, which carries an amyloid-producing gene.
Head and her colleagues at the UC Irvine Alzheimer’s Disease Research Center want to understand why some of them, like the woman in the case study, do not experience the disabling neurodegenerative effects of have these plaques in their brains. The case study was first published in the journal Alzheimer's & Dementia.
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Elizabeth Head, PhD, is professor and vice chair for research at the UC Irvine School of Medicine's Department of Pathology & Laboratory Medicine. For more than two decades, her research has focused on identifying targets to help slow or prevent the progression of Alzheimer's disease in people with Down syndrome. She is the author or co-author of nearly 300 articles on the syndrome and Alzheimer's disease.
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