Abstract
We have identified more than 20 nuclear Alzheimer's disease (AD) families in Colombia that carry a single point mutation, E280A, in the presenilin 1 (PSEN1) gene. Genealogical and genetic studies have demonstrated that these families share a common founder more than 400 years ago. The mean age of onset of AD in these families is 45.2 years but the range is almost 30 years (35–62 years). The wide range in age of onset suggests that genetic and/or environmental risk factors modify the age of onset. We are using two complementary approaches to the identification of genetic modifiers: candidate gene analyses and a whole genome screen analysis.
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