Neurofilament light a useful biomarker for frontotemporal dementia

April 20, 2022 0 By CH Unnikrishnan

A test of protein in the blood gets further support as a biomarker for patients diagnosed with frontotemporal dementia (FTD). In a new study published in Cell Reports Medicine, Mayo Clinic researchers report that neurofilament light (NfL) is a useful biomarker for frontotemporal dementia. This biomarker may allow for quicker diagnosis and participation in early treatment clinical trials. FTD is a group of brain disorders with few treatment options. These disorders are often characterised by changes in behaviour, cognition, language or movement.

The scientists at Mayo Clinic and members of the Advancing Research and Treatment in Frontotemporal Lobar Degeneration and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects studies, or ALLFTD Consortium, measured the amount of neurofilament light protein in plasma collected from three groups, including healthy people with no gene mutation known to cause frontotemporal dementia; healthy people with a gene mutation that causes frontotemporal dementia; and people with a frontotemporal dementia syndrome. 

Researchers found plasma neurofilament light levels were elevated in all types of frontotemporal dementia, and in people who had mutations but hadn’t shown symptoms yet. The research also found that in patients with frontotemporal dementia, higher levels of neurofilament light were associated with greater disease severity. 

The increased levels of the protein were found just before people became symptomatic. Because it is relevant across different types of frontotemporal dementia and at different stages of disease development, the researchers say plasma neurofilament light will ultimately be useful in improving the design of clinical trials. That is because it will facilitate the participation of patients earlier in their disease course. This will provide a means to gauge the therapeutic benefit of potential treatments being tested

“There is at present no truly effective treatment for patients with FTD,” says Dr Tania Gendron, (Ph.D.), a Mayo Clinic neuroscientist and corresponding author of the study. 

“It’s believed that potential treatments will be most beneficial to individuals when administered early in the disease course — soon after symptom onset or ideally even before symptom onset. Unfortunately, this is not always possible because there are often delays in diagnosing FTD, and there are still no confirmed means to predict when someone may begin to develop symptoms,” he added.

However,  the researchers are now set out to conduct a comprehensive investigation of plasma neurofilament light across all frontotemporal dementia syndromes in a large cohort of approximately 1,000 participants. 

The FTD related disorders are typically grouped under the frontotemporal dementia umbrella that  include frontotemporal dementia (behavioural variant), primary progressive aphasia, progressive supranuclear palsy, and corticobasal syndrome and related variants. All of these disorders involve degeneration and shrinkage of the frontal and temporal lobes of the brain.

The researchers say their findings could inform other areas of research on neurodegenerative diseases, with neurofilament light being a biomarker for many of those diseases. Mayo Clinic researchers also are investigating neurofilament light for stroke, COVID-19 and other neurodegenerative diseases.