Our Portfolio

The University of Edinburgh

Neil McKenzie, PhD, CChem, MSc, BSc(Hons) | CO

The University of Edinburgh

Neil McKenzie, PhD, CChem, MSc, BSc(Hons) | CO

The development and evaluation of a clinical RT-QuIC test for diagnosis of TDP-43 linked Fronto-temporal dementias

There are many different types of dementia and getting a clear diagnosis is difficult as the symptoms of one dementia may overlap with another. Fronto-temporal dementia (FTD) is the name for a group of dementias, of which there are several sub-types.

Currently, diagnosis of FTD relies on a doctor taking images of the patient’s brain and talking to the patient and their family about the symptoms being experienced. It is the progression of the disease that ultimately allows a diagnosis of FTD. This means that patients with FTD generally wait longer for the right help than those with other dementias, where there are well-established biomarkers which can be easily detected and measured.

Earlier diagnosis of any disease allows doctors to better manage the patient symptoms and allows for new treatments to be tested at a stage in the disease where they could make a difference to the patient’s quality of life and overall lifespan.

Specific subtypes of FTD (called FTD-TDP-43) leave a signature in the brain tissue and cerebrospinal fluid (CSF) of the patient. This signature is a misfolded protein, called TDP-43. Brain tissue is difficult to sample when a patient is alive, but CSF is routinely sampled in hospitals every day.

We have a test to detect this misfolded TDP-43 which works well with brain tissue, but currently less well with cerebrospinal fluid.  Using brain tissue samples from patients with clinically confirmed dementias, we will optimise the test to pick out cases of FTD-TDP-43 from other types of dementias and ultimately evaluate how ‘good’ (i.e. sensitive and specific) the test is at identifying FTD-TDP-43 using CSF.