While the vast majority of individuals with Alzheimer’s disease (AD) have late-onset dementia, occurring at age 65 or older, there are families who carry genetic mutations which are associated with early onset of illness. Although rare, these families with autosomal dominant mutations and early-onset AD provide a unique opportunity for studying the pathogenesis of this disease. In the Familial Dementia Neuroimaging Lab and the Multicultural Alzheimer’s Prevention Program (MAPP), Yakeel Quiroz-Gaviria, PhD and colleagues have been studying individuals belonging to the world’s largest family with autosomal-dominant Alzheimer’s disease. In this family, there is a single mutation in the gene coding for the amyloid precursor protein, presenilin 1 (PSEN-1), which results in early onset of AD.
Earlier this year, Dr. Quiroz gave the Frances Mahoney Lecture on Aging at the National Institutes of Health (NIH). You can watch the video HERE.
In this talk, Dr. Quiroz discusses how longitudinal studies conducted in this Colombian cohort can inform biomarker research, disease prevention, and treatment development. The ground-breaking findings coming out of this research have helped researchers re-conceptualize Alzheimer’s disease as a sequence of events beginning decades before cognitive decline is evident. The ultimate hope is that by understanding and being able to identify the earliest changes associated with Alzheimer’s, we can develop and initiate interventions which prevent or slow the progression of the disease.
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COLBOS Study Reveals Mysteries of Alzheimer’s Disease (NIH Record)
Sanchez JS, Hanseeuw BJ, Lopera F, Sperling RA, Baena A, Bocanegra Y, Aguillon D, Guzmán-Vélez E, Pardilla-Delgado E, Ramirez-Gomez L, Vila-Castelar C, Martinez JE, Fox-Fuller JT, Ramos C, Ochoa-Escudero M, Alvarez S, Jacobs HIL, Schultz AP, Gatchel JR, Becker JA, Katz SR, Mayblyum DV, Price JC, Reiman EM, Johnson KA, Quiroz YT. Longitudinal amyloid and tau accumulation in autosomal dominant Alzheimer’s disease: findings from the Colombia-Boston (COLBOS) biomarker study. Alzheimers Res Ther. 2021 Jan 15;13(1):27.
