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Emory research team helps uncover early Alzheimer’s risk markers in adults with Down syndrome
brain scan photo

Dr. Erik Johnson of Emory’s Goizueta Brain Health Institute led research uncovering early Alzheimer’s markers in adults with Down syndrome.

— Getty Images, haydenbird.

Groundbreaking research led by Erik Johnson, MD, PhD, neurologist and neuroscientist at Emory University’s Goizueta Brain Health Institute, reveals that adults with Down syndrome (DS) may experience a form of Alzheimer’s disease (AD) that has unique features compared to other forms of the disease.

The study, published in Nature Communications, analyzed spinal fluid from 229 individuals with DS in the Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) to identify how Alzheimer’s progresses from early stages to dementia. These results were then compared to individuals with late-onset Alzheimer’s disease and a rare genetic form of AD called autosomal dominant AD.

“This research shows us that Alzheimer’s disease in people with Down syndrome is not the same as in other populations,” says Johnson, assistant professor at Emory University School of Medicine and lead U.S. investigator for the study. “That means we may need to have special considerations in how we detect, treat, and ultimately prevent AD in this patient population.”

Key findings from Johnson and collaborators:

  • People with DS showed earlier and more severe changes in immune system proteins, blood-brain barrier dysfunction and nerve fiber tracks and insulation in the brain even before the classic AD pathology of amyloid and tau appeared.
  • Individuals with DS also had early problems with neurons that suppress the activity of other neurons, which can eventually lead to seizures. Seizures are a common feature of DS patients who have AD.
  • These early changes may be driven by trisomy 21, which is an extra copy of chromosome 21 that causes Down syndrome.

The study reinforces the importance of early screening and specialized care strategies for adults with Down syndrome, who are at significantly higher risk for developing Alzheimer’s as they age.


About Emory Goizueta Brain Health Institute

The Emory Goizueta Brain Health Institute is dedicated to advancing innovation in brain health prediction, prevention and treatment. Our talented team aims to uncover the mechanisms of brain diseases and develop groundbreaking therapeutic strategies and biomarkers. The Emory Goizueta Brain Health Institute is a proud part of Emory University, benefiting from its rich history of academic excellence and collaborative spirit. For more information, visit goizuetabrainhealth.emory.edu.

About Down Alzheimer Barcelona Neuroimaging Initiative

The Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) is an international research collaboration aimed at understanding Alzheimer’s disease progression in people with Down syndrome. For more information, visit https://santpaumemoryunit.com


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