Mayo Clinic researchers and members of the Advancing Research and Treatment in Frontotemporal Lobar Degeneration and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects studies, or ALLFTD Consortium, report that neurofilament light (NfL) is a useful biomarker for frontotemporal dementia in a new paper published in Cell Reports Medicine. This biomarker may enable earlier diagnosis and participation in clinical trials for early treatment.
“At the moment, there is no truly effective treatment for patients with FTD,” says Tania Gendron, Ph.D., a Mayo Clinic neuroscientist and the study’s corresponding author. “It is thought that potential treatments will be most beneficial to individuals when administered early in the disease course — soon after symptom onset or, ideally, before symptom onset.” Unfortunately, this is not always possible because there are often delays in diagnosing FTD, and there is still no confirmed method of predicting when someone will begin to develop symptoms.”
In a large cohort of approximately 1,000 participants, the researchers set out to conduct a comprehensive investigation of plasma neurofilament light across all frontotemporal dementia syndromes.
Frontotemporal dementia was associated with the following disorders:
- Frontotemporal dementia (FTD) (behavioral variant).
- Primary progressive aphasia (PPA).
- Supranuclear palsy progresses.
- Corticobasal syndrome and its variations.
- All of these disorders are characterised by brain degeneration and shrinkage in the frontal and temporal lobes.
The amount of neurofilament light protein in plasma collected from three groups was measured by the researchers:
People who are healthy and have no known gene mutations that cause frontotemporal dementia.
People who are otherwise healthy but have a gene mutation that causes frontotemporal dementia.
People suffering from the frontotemporal dementia syndrome.
Researchers discovered that plasma neurofilament light levels were elevated in all types of frontotemporal dementia, as well as in people who had mutations but had not yet developed symptoms.
They discovered that higher levels of neurofilament light were associated with worse disease severity in patients with frontotemporal dementia. The researchers also discovered elevated levels of the protein just before people developed symptoms.
“Through this study, we have created a large informational database that includes cross-sectional and longitudinal NfL data, as well as demographic, genetic, clinical, and neuropsychological data,” says Leonard Petrucelli, Ph.D., a Mayo Clinic neuroscientist and the study’s corresponding author. “This database, which is now available to FTD researchers, is certain to spark new lines of investigation into FTD spectrum disorders.” The Ralph B. and Ruth K. Abrams Professor of Neuroscience is Dr. Petrucelli.
According to the researchers, their findings could help other areas of research on neurodegenerative diseases, as neurofilament light is a biomarker for many of them. Neurofilament light is also being studied by Mayo Clinic researchers for stroke, COVID-19, and other neurodegenerative diseases.
The National Institute on Aging and the National Institute of Neurological Disorders and Stroke funded this study in part through grant U19AG063911. See the published study for the complete author list, disclosure information, and a complete list of those who funded the study.