Study of brain changes 20 years before hereditary dementia symptoms start
13 July 2015
Researchers at UCL Institute of Neurology have been awarded a major grant to look at what happens in the brain of people who carry an abnormal gene linked to frontotemporal dementia (FTD) up to 20 years before symptoms start.
FTD is highly heritable and the second most common form of young-onset dementia after Alzheimer’s disease. The disease is caused when nerve cells in the frontal and/or temporal lobes of the brain are affected by abnormal changes and eventually die.
Researchers will assess different measures of the disease process, called biomarkers, and see how these change over time by analysing spinal fluid samples and looking at brain images of people with mutations in the GRN, MAPT and C9ORF72 genes, which makes up about a third of FTD patients.
By studying individuals who are destined to develop the disease later
in life researchers can understand the development from the very
We want to see whether the measures are different at different time-points before symptoms start, we think these patterns are going to be different for the three different genes. We would like to prevent people from developing symptoms of FTD so it is very helpful to study people who carry an abnormal gene, knowing they are going to develop the disorder at some point in the future. Dr Jonathan Rohrer, Department of Neurodegenerative Disease, UCL Institute of Neurology
Genetic changes are present from birth however it is not known
exactly when and how the disease process starts. Preferably the
researchers would like to see the next stage of studies like this one
investigate younger people.
We hope to be able to measure what’s happening in the brain during the 10 or 20 years before symptoms start. The next stage forward will be studying younger and younger people, such as what is happening in the brain of people in their twenties and thirties. Dr Jonathan Rohrer
The study was funded by the Medical Research Council and led by Dr
Rohrer and Professor Martin Rossor, Director of the NIHR Queen's Square
Dementia Biomedical Research Unit, as part of a consortium of research
centres across Europe and Canada with expertise in genetic FTD called
the Genetic Frontotemporal dementia Initiative (GENFI). The key
objectives of GENFI are to develop markers which help identify FTD at
its earliest stage as well as markers that allow the progression of the
disease to be tracked. The eventual aim will be to use these markers in
future clinical trials of drugs in genetic FTD.
FTD is an important cause of dementia and often misdiagnosed. The recent advances in our understanding of inherited FTD provide us with optimism for finding treatments. However, early intervention, ideally before symptom onset, is key and GENFI provides that opportunity. Professor Martin Rossor, Director of the NIHR Queen Square Dementia Biomedical Research Unit
Professor Martin Rossor, Director of the NIHR Queen Square Dementia Biomedical Research Unit