Gertrude H. Sergievsky Center
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Gertrude H. Sergievsky Center image

Faculty and Administrative Staff

Nicole Schupf, PhD, DrPH

Professor of Clinical Epidemiology

Nicole Schupf, PhD, DrPH

Columbia University, College of Physicians and Surgeons
630 West 168th Street
New York, New York 10032

Telephone: 212-305-2381
Fax: 212-305-2426

Research Summary

Our group conducts studies of aging and Alzheimer's disease in adults with Down syndrome, in collaboration with colleagues at the NYS Institute for Basic Research. A major focus of current work is the investigation of genetic and host factors that increase ß -amyloid load or accelerate the accumulation of fibrillized amyloid plaques. We are examining the relation of these factors to age at onset and risk for Alzheimer's disease.

Recent Work Includes

Studies of the relationship between estrogen deficiency, indicated by age at onset of menopause, apolipoprotein E genotype and age at onset of Alzheimer's disease in women with Down syndrome. We have shown that onset of dementia is associated with age at menopause in women with Down syndrome, and that this association is independent of APOE genotype. In addition, nondemented women with Down syndrome who had low levels of free or bioavailable estrogen levels developed Alzheimer's disease earlier than women with higher levels of free or bioavailable estrogen. These findings support a neuroprotective role for estrogen. Currently, we are investigating the role of polymorphisms in genes involved in estrogen biosynthesis and estrogen receptor function to differences in hormone levels, to rate of cognitive decline and to risk of Alzheimer's disease in women with Down syndrome. Variants of these genes could influence age at onset or risk of AD by altering estrogen levels over long periods of time.

Investigation of the relation of plasma amyloid ß peptides to onset of dementia in adults with Down syndrome. We have shown that Aß1-42 and Aß1-40 levels are significantly higher in adults with DS than in controls from the general population and that Aß1-42 levels are selectively increased in demented adults with DS. In a prospective study, we found that nondemented adults with Down syndrome who had plasma Ab42 levels in the highest tertile were more than twice as likely to develop AD as those in the lowest tertile and were twice as likely to die over the study period as those in the lowest two tertiles. These findings support the hypothesis that individual differences in Aß processing, distinct from overexpression of APP, may act as an initial step in the pathogenesis of AD. Our current work is focused on the relation of changes in beta amyloid peptide levels to risk of Alzheimer's disease and to disease progression.


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Last updated: October 25, 2013
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