“Sometimes we say that we don’t know the cause of Alzheimer’s disease,” says Dr Juan Fortea, director of the Sant Pau Memory Unit in Barcelona, Spain. But, for about 15 to 20 per cent of cases, that could change. Fortea is a co-author on a new study published in Nature Medicine which states that people who have two copies of a specific gene – APOE4 – are almost certain to develop Alzheimer’s, suggesting it is an underlying cause of the disease rather than a risk factor. The study also found people with two copies of the gene develop the disease earlier. The team used clinical data from more than 10,000 people, including more than 500 with two copies of APOE4. A shift in classification could open up new incentives for treatments and trials – although more research is needed to understand the variant’s impact on diverse populations (most patients in this study had European ancestry).