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Study reveals APOE4 gene duplication as a new genetic form of Alzheimer's disease - EurekAlert

<p><strong>A study led by researchers from the Dementia Neurobiology Group at the Sant Pau Research Institute, published today in the journal Nature Medicine, has identified that almost all individuals with two copies of the APOE4 gene develop signs of Alzheimer&#39;s disease.</strong></p> <p><strong>The researchers, led by Dr. Juan Fortea, Director of the Research Area on Neurological Diseases, Neuroscience, and Mental Health at the Sant Pau Research Institute and the Memory Unit of the Neurology Service at the same hospital, analyzed data from a Spanish cohort and an American cohort of over 10,000 patients and samples from over 2,000 brains.</strong></p> <p><strong>The results suggest that APOE4 homozygotes could represent a genetically determined form of Alzheimer&#39;s disease. It is estimated that between 2 and 3 percent of the population carries this gene variant.</strong></p> <p><strong>Based on these findings, the authors suggest a reconceptualization of the disease similar to what was proposed a few years ago from Sant Pau in Down syndrome, another genetically determined form of Alzheimer&#39;s.</strong><strong> </strong></p>


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