Finding ways to identify the earliest signs of frontotemporal dementia

Lead researcher: Dr Jonathan Rohrer

Institution: University College London

Grant type: PhD studentship

Duration: 3 years

Amount: £70,468

Scientific title: Evaluating presymptomatic cognitive changes in genetic frontotemporal dementia

Why did we fund this project?

Comments from the Research Network:

'This seems to be an interesting development in helping to get an early diagnosis of FTD.'

'Having known several people with very distressing genetic FTD with no current treatment available, I am encouraged that this proposed research [could lead] to the possibility of any drug treatment commencing years before symptoms develop.'

'It is desirable to support the UK GENFI study and the prospective doctorate student has already shown commitment and aptitude in this area of research.'

What do we already know?

Frontotemporal dementia is a form of dementia that usually affects people in their 50s and 60s. The symptoms differ from person to person but can include changes in personality and problems with language and communication. 

The exact causes of the majority of cases frontotemporal dementia are so far unknown. However, about a third of people with the condition have changes to certain genes that could lead to the condition. The majority of these changes occur on one of three genes: progranulin, C9orf72 and tau. 

Studying people who are known to have these particular genetic changes gives researchers an insight into the development of the condition, even before the symptoms develop. 

The researchers on this project have been setting up specialist centres as part of the 'Genetics of frontotemporal dementia initiative' (GENFI). Initial work on this project has found that people with genetic links to frontotemporal dementia showed disease-related changes in brain scans 10 to 15 years before symptoms started. Some people also showed subtle changes in their thinking up to five years before diagnosis. This indicates that the disease process begins several years before the more easily identifiable symptoms develop. 

What does this project involve?

The researchers now want to develop more rigorous tests of thinking abilities to try and spot subtle symptoms of frontotemporal dementia as soon as possible.

The researchers aim to ask 200 people to be involved in the study - about a fifth will be people with genetic forms of frontotemporal dementia and are already showing symptoms and the other participants will be family members who are not showing signs of the condition. Of those participants who are not showing signs, some will be in the early stages of frontotemporal dementia and others will be unaffected. The study will then be able to compare these groups to find out how best to spot the early signs of the condition. 

The student on this project will design and create the more rigorous tests, which will be computer based. The tests will be designed especially for people with frontotemporal dementia and will assess aspects of thinking that are currently not covered by existing tests. The student will then see whether any changes in thinking relate to changes to the brain seen in scans.

The researchers hope that these tests will help to understand more about what the subtle early signs are in frontotemporal dementia.

How will this benefit people affected by dementia?

There are currently no treatments for frontotemporal dementia. One of the problems with clinical trials of potential treatments for the condition is that the treatment may be given too late to have any effect. Understanding how to spot the earliest signs of the condition means that people can be enrolled as soon as possible in clinical trials. This will give the best chance of knowing whether any treatments designed to delay or prevent symptoms of the condition will be effective.