Scientists in the US have tracked some of the earliest Alzheimer’s changes in a group of people with high risk of a rare early-onset form of the disease. The findings will help scientists to understand what happens in the brain during Alzheimer’s and could aid early detection of disease. The two research papers are published online on 6 November in the journal Lancet Neurology.
The studies focused on a group of individuals from Columbia who are all members of an extended family group that carries a rare genetic mutation that causes Alzheimer’s disease. Family members who have the mutation will develop Alzheimer’s at an average age of 45, and their children will have a 1 in 2 chance of developing the disease too.
To look for the earliest signs of the disease in family members at risk of developing this form of Alzheimer’s, scientists followed 44 members of the group. All of the volunteers were aged between 18 and 26 and none had any memory or thinking problems, but 20 out of the 44 had the genetic mutation which destined them to develop the disease. Participants underwent brain scans to look for brain activity and had blood and cerebrospinal fluid samples taken for analysis.
The study found characteristic changes in the activity of particular brain regions in volunteers who had the mutation compared to those who did not. They also found that volunteers with the mutation showed higher levels of the Alzheimer’s protein amyloid in their blood and cerebrospinal fluid around 20 years before symptoms were expected to show.
The second study followed 50 volunteers from the same Colombian group, using brain scans to detect amyloid build-up in the brain. The team could detect amyloid as early as age 28 in those with the mutation, about 21 years before dementia appeared. Amyloid levels continued to rise over time, before reaching a plateau at around 38 years of age.
Dr Simon Ridley, Head of Research at Alzheimer’s Research UK, said:
“By generously agreeing to take part in research, these affected families are helping scientists get a unique insight into how this devastating disease develops. Although early-onset inherited Alzheimer’s is rare and may not entirely represent the more common late-onset form, the findings highlight changes can take place in the brain decades before symptoms show. Mapping what changes happen early in the brain will help scientists to improve detection of the disease and allow potential new treatments to be tested at the right time.
“New drugs are being developed and tested to stop amyloid from taking hold, but studies like these show that timing could be crucial for whether these drugs are successful. With no treatments currently available to slow or stop the progression of Alzheimer’s, and diagnosis rates low, there is an urgent need for more research to understand how the disease develops and take us one step closer to a cure.”
This material has been published with the kind permission of Alzheimer Research UK.
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