Alongside coordinating research visits and experiments, the FTD_Talk team regularly publishes our findings to share our research progress with other scientists and you. Recently, two of our team members had their work published: Aitana’s paper focuses on biomarkers for genetic FTD, and Rhian’s research is about Ignite, a computerised cognitive testing app.
Aitana’s research: 
Aitana is a senior research fellow working in our lab. Her field of research is focused on developing new biomarkers for FTD and with a focus on assessing synaptic dysfunction, a part of the brain that is involved in communication between brain cells.
The paper titled Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes dives into the protein-level changes that happen in the brain, in different genetic forms of FTD. For that, Aitana used a laboratory technique called proteomics analysis. Proteomic analysis is a powerful technique that helps scientists discover disease biomarkers, drug targets, and more.
Aitana and her colleagues found that there are differences in the protein “fingerprint” of spinal fluid across genetic frontotemporal dementia subtypes- this is a great step forward to help us identify proteins that can serve as potential biomarkers for specific forms of genetic FTD.
How is this done?
Aitana and her colleagues used a technique called mass spectrometry to study proteins in the cerebrospinal fluid (CSF)—the liquid around the brain and spinal cord—of people with a genetic form of frontotemporal dementia (FTD). They analysed CSF samples from 238 individuals, including:
- People with FTD-related genetic mutations who already had symptoms (symptomatic)
- People who carry these mutations but were not yet showing symptoms (asymptomatic)
- Control participants who do not carry a gene associated with FTD.
The focus was on the three most common genetic causes of FTD: C9orf72, GRN, and MAPT.
The team identified 1,981 different proteins in the CSF and found that:
- Each genetic form of FTD had its own protein profile. Specific proteins were found to be either more or less abundant depending on the gene involved.
- Changes in protein levels were already detectable in asymptomatic participants. This suggests that biomarkers for FTD can be identified before symptoms appear.
- Some protein changes were gene-specific. For instance, people with MAPT mutations had lower levels of lysosomal proteins—these help remove waste from cells—while this wasn’t seen in those with C9orf72 or GRN mutations.
Does this relate to other neurodegenerative diseases too?
Many of these proteins, are not specific to FTD, and also change in other neurodegenerative conditions such as Alzheimer’s dementia. Because of this, the paper also compared findings to Alzheimer patients and found that out of the 1,192 proteins that were in common between with Alzheimer’s disease, 221 proteins were specific to FTD.
How does this paper help the field of FTD research?
This is one of the largest proteomics studies conducted in genetic FTD and sets a new benchmark for the field. Identifying specific protein changes for each gene type helps us understand what’s going wrong in the brain and moves us closer to more accurate diagnoses, early detection tools and treatments.
Aitana and her team highlight that more research is needed to confirm whether these proteins are specific enough to FTD, before specific biomarkers for each gene can be used for diagnosis and early detection of symptoms.
Rhian’s research:
Rhian, a postdoctoral researcher on the FTD_Talk team, leads the Early Detection of FTD (EDoF) study. Her research focuses on finding new digital biomarkers to help detect frontotemporal dementia (FTD) early, before noticeable symptoms appear. A key tool of her work is Ignite, a cognitive testing app.
Why is this important?
Digital biomarkers, like Ignite, offer a big advantage: they allow for regular, remote monitoring of cognitive function. This means that tests can be completed at home—without needing to travel to a research centre. Not only does this make participation more accessible, but it also allows researchers to spot subtle changes in cognition that might be missed in annual research visits.
What did the study do?
Rhian’s paper titled ‘Ignite, a cognitive assessment developed for Frontotemporal dementia? – Concurrent Validity, Test—Retest Reliability, and Normative Properties of the Ignite App: A Cognitive Assessment for Frontotemporal Dementia’ set out to test whether Ignite provides reliable and accurate results in healthy adults.
How was the study conducted?
- 2,000+ healthy adults completed Ignite at home, helping Rhian and her colleagues to understand how performance on the tasks varies across different ages.
- A separate sample of 98 participants completed Ignite twice (7 days apart), completed established pen-and-paper tests, and provided feedback on the app’s usability.
This helped researchers compare Ignite’s performance with gold-standard methods and evaluate how enjoyable and user-friendly the app is.
What were the results?
- Strong validity: The Ignite app performed similarly to traditional cognitive tests, especially in areas like processing speed, executive function, social cognition, and visuospatial skills. This suggests it’s a reliable tool for measuring brain health in healthy adults.
- Positive user feedback: Participants found the app easy to use and enjoyable—important qualities for long-term monitoring and participation in research.
- Future potential: These results lay the groundwork for using Ignite in populations affected by FTD, with the potential to detect early cognitive changes and support clinical trials.
Rhian and our team are working on developing Ignite further by increasing the available translations of the test to reach a broader more diverse population. Additionally, a dot-counting and memory task will be added to measure participant engagement, ultimately allowing the app to be used in clinical trials detecting early symptoms of FTD, and in different neurodegenerative diseases as a cognitive assessment.
None of these discoveries would be possible without our incredible study participants around the world who take part in a wide range of research studies. We’re grateful for your ongoing participation and support—thank you!
- If you are interested in reading more about the work from Aitana or Rhian, click here
- If you are interested in participating in our research, click here
Amelia Blesius, on behalf of the FTD talk team.
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