Researchers Identify New Genetic Form of Alzheimer’s Disease

Study shows almost all individuals with two copies of the APOE4 gene develop Alzheimer’s, indicating a new genetic form of the disease.

“These data represent a reconceptualization of the disease or what it means to be homozygous for the APOE4 gene. This gene has been known for over 30 years and it was known to be associated with a higher risk of developing Alzheimer’s disease. But now we know that virtually all individuals with this duplicated gene develop Alzheimer’s biology. This is important because they represent between 2 and 3% of the population,” explained lead researcher Dr.

They found that virtually all APOE4 homozygotes showed Alzheimer’s pathology and had higher levels of disease-associated biomarkers at age 55 compared to individuals with the APOE3 gene. At age 65, over 95% of APOE4 homozygotes showed abnormal levels of amyloid in cerebrospinal fluid – a key early pathological feature in Alzheimer’s disease – and 75% had positive amyloid scans.

“This reconceptualization of the disease is similar to what we proposed from Sant Pau with Down syndrome, which a few years ago was also not considered a genetically determined form of Alzheimer’s,” adds Fortea.These findings could be instrumental in the development of individualized prevention strategies, clinical trials, and targeted treatment approaches for this specific population. Dr.

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