Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree

Jorge Iván Vélez Valbuena
Alzheimer’s disease (AD) is a neurodegenerative disorder that accounts for 60-80% of dementia cases, especially in people over 65 years. More than 36 million people had AD or related dementias in 2010, and more than ~116 million will be diagnosed by 2050. Over the last 30 years, our group has studied the largest multigenerational extended pedigree from the Paisa genetic isolate in which the p.Glu280Ala (E280A) fully penetrant mutation in the Presenilin-1 (PSEN1) gene causes...
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