New thesis about biomarkers in frontotemporal dementia (FTD)

Frontotemporal dementia (FTD) is a collective term for a group of neurodegenerative diseases. Effective treatment is lacking and there are no objective measures that can confirm an FTD diagnosis. The symptoms in FTD are often overlapping with other diseases such as Alzheimer disease and it is essential to identify biomarkers specific for FTD to improve diagnostic accuracy and offer appropriate care and support for the patients. GENFI (genfi.org) is an international, multicentre study where individuals with a genetic risk of FTD are included and followed over time. The purpose of GENFI is to investigate early changes and biomarkers in FTD.

Which are the most important results? 

We have confirmed that a certain mutation in chromosome 9 (C9orf72) is particularly common in patients with FTD in Sweden and that FTD is often hereditary. In addition, we have identified potential cognitive and fluid biomarkers. We were for example able to separate individuals with symptom of FTD from those without symptoms based on the levels of a few proteins in CSF. The results also indicate that some proteins are elevated already in the preclinical phase of FTD.

How can this new knowledge contribute to the improvement of people’s health? 

Currently, no biomarkers specific for FTD are being used in clinical practice, and finding reliable biomarkers is essential for diagnostic and prognostic purposes as well as for the development of therapeutic interventions. To find markers that could aid in evaluating a treatment response are particularly recured now since the first human clinical trials in FTD in Sweden are being initiated.

What's in the future for you? Will you keep on conducting research? 

Yes, research will always be important to me. For now, I will focus on my clinical duty a bit more, but I have several ongoing research projects.