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NIAD Study

Study Looks at Alzheimer’s Biomarkers in Those with Down Syndrome


Dr. Benjamin Handen will lead a new multicenter effort exploring the progression of Alzheimer’s-related biomarkers  and cognitive/adaptive functioning in adults with Down syndrome with support from a five-year, $12.5 million grant from the National Institute on Aging.  Dr. Handen will collaborate with Department of Psychiatry colleagues Drs. William Klunk (co-principal investigator), Howard Aizenstein, Annie Cohen, and Rameshwari Tumuluru, and other faculty to implement the project.

The Neurodegeneration in Aging Down Syndrome (NIAD) Study engages researchers at four sites in the United States and the United Kingdom.  Investigators will monitor 180 people over the age of 25 years with Down syndrome and 40 people without the condition for five years for factors including amyloid in blood and cerebrospinal fluid and on PET scans; structural and functional MRI scans; and cognitive/functional measures.Individuals with Down syndrome have three copies of chromosome 21, each containing a copy of the gene associated with the precursor protein for beta-amyloid, which is found in excess in the brains of Alzheimer’s patients. Adults with Down syndrome typically show  Alzheimer’s pathology by their 40s.  Seventy to eighty percent of these individuals have a chance of developing clinical dementia by their 60s. 

“It’s apparent from Down syndrome patients that amyloid deposition is not sufficient to produce dementia. These individuals have these deposits for more than a decade before cognitive decline is apparent, said Dr. Handen. “Understanding the relationships between Down syndrome, disease biomarkers and cognitive decline is critically important to help us design better therapies for all people with Alzheimer’s.”

The NIAD study is part of the National Institute of Health's Biomarkers of Alzheimer’s Disease in Adults with Down Syndrome Initiative, which supports teams of researchers using brain imaging and fluid and tissue biomarkers in research that may one day lead to effective interventions for all people with dementia.