Research

What current research is being done for Frontotemporal dementia?

What is FTD ?

Frontotemporal dementia (FTD) is one of the less common types of dementia, but it is a major cause of dementia in people under 65.

This disease damages the frontal and temporal lobes of the brain, which control behaviour, personality, decision-making and language. This means people living with FTD may experience changes in behaviour, communication or social understanding.

Currently, there are no treatments that can stop or slow the progression of FTD, so research into the condition is vital.

The latest research is exploring genetics and brain inflammation

Researchers are now focusing on understanding the earliest changes that happen in the brain, often many years before symptoms begin. They are also investigating how genetic changes linked to FTD, particularly in the MAPT, GRN and C9orf72 genes, affect brain cells and the brain’s immune system. 

Mutations in these genes disrupt normal protein function, leading to toxic build-up and the death of nerve cells in the brain.

From studying brain scans and changes in early memory and thinking abilities, to exploring how genes and inflammation contribute to disease, our researchers are uncovering important clues about how FTD develops. 

This knowledge will help identify new treatment targets, improve diagnosis and better care for people living with FTD in the future.

Current research into frontotemporal dementia

We've highlighted some of the projects currently underway.

Using advanced brain scans to understand genetic FTD

Dr Martina Bocchetta – University College London

Dr Martina Bocchetta is investigating how, from the very earliest stages of the disease, different forms of genetic FTD affect the brain. 

Around one third of FTD cases are caused by inherited changes in one of three genes: tau, progranulin or C9orf72. However, people with these genetic forms of FTD can experience the condition in very different ways, making diagnosis and the design of clinical trials particularly challenging.

By identifying the earliest brain changes, the study aims to improve understanding of how the disease develops. This could help researchers develop more precise diagnostic tools and better outcome measures for future clinical trials.

This project will use advanced brain scanning techniques to study changes in brain structure and connectivity over time. Dr Bocchetta will analyse MRI scans from around 900 participants taking part in the international Genetic FTD Initiative (GENFI) study, including people who carry a genetic mutation but have not yet developed symptoms. The research will track changes in brain regions and connections using detailed MRI methods across multiple yearly scans.

Learn more about Dr Bocchetta's project

Investigating the role of immune cells in the brain in FTD

Dr Sarah Ryan – University of Manchester

Dr Sarah Ryan is investigating how inflammation in the brain may contribute to inherited forms of frontotemporal dementia (FTD), particularly those linked to changes in a gene called C9orf72. This is the most common genetic cause of FTD.

Changes in C9orf72 can cause abnormal proteins to build up in cells and can also reduce levels of the normal C9orf72 protein. Researchers are still trying to understand exactly how these changes affect brain cells and lead to the damage seen in FTD.

Dr Ryan is particularly interested in the brain’s immune cells, which normally help protect and maintain a healthy brain. Her earlier research suggests that abnormal proteins produced because of C9orf72 changes can activate a “danger sensor” in these cells, triggering inflammation that could contribute to cell damage.

Using laboratory models, Dr Ryan will investigate how these abnormal proteins affect the brain’s immune cells and the processes that control inflammation. She will also explore whether reducing this inflammatory response could help protect cells from damage. By understanding more about what is going wrong inside these cells, the research could reveal new possible targets for future FTD treatments..

Learn more about Dr Ryan's project

GENFI-YouTH: Studying the earliest signs of genetic FTD in young people

Professor Jonathan Rohrer – University College London 

Professor Jonathan Rohrer is supervising this PhD project, which aims to understand the very earliest changes linked to inherited FTD. The study focuses on families with mutations in the C9orf72, GRN or MAPT genes, which are responsible for many genetic forms of FTD. 

Research has already shown that brain changes can appear many years before diagnosis, even in people in their twenties. This project asks whether those changes may begin even earlier, during or before the teenage years.

To investigate this, they will recruit children aged 9 to 17 from families with a known FTD-linked gene changes and compare them with relatives who have not inherited the mutation. They will also use data from 18 to 29-year-olds in the wider GENFI study. Participants will have clinical, memory, thinking and behaviour assessments, as well an MRI brain scan at the start of the study and again two years later.

By furthering our understanding of when the earliest changes in FTD begin, this project could help guide when future treatments should be given and improve understanding of how FTD develops long before symptoms appear. 

Learn more about Professor Rohrer's project

Boosting protective proteins in genetic FTD

Professor Kurt De Vos – University of Sheffield

Professor Kurt De Vos is investigating new ways to protect brain cells in people with FTD caused by changes in the C9orf72 gene, the most common genetic cause of FTD and amyotrophic lateral sclerosis (ALS). 

In people with this genetic mutation, the brain produces only about half the normal amount of the C9orf72 protein. This shortage can disrupt communication between nerve cells and affect important processes that help cells remove waste and stay healthy.

This project focuses on understanding how cells control the levels of the C9orf72 protein. Normally, specialised proteins mark C9orf72 so it can be broken down and removed. Professor De Vos and his team will investigate the molecules responsible for this process and test whether blocking them can increase levels of C9orf72 and its partner protein, SMCR8.

Using lab experiments, the researchers will identify and study proteins that regulate C9orf72 breakdown and test whether boosting these proteins can restore normal cell function. If successful, this research could highlight new targets for treatments aimed at slowing or preventing FTD.