Research team confirms a beneficial blood biomarker for a range of brain disorders in a new study

summary: The study confirms that neurofilament light is a useful blood-based biomarker for frontotemporal dementia, PSP, and primary progressive aphasia.

source: Mayo Clinic

A blood protein test is receiving more support as a biomarker for patients diagnosed with frontotemporal dementia (FTD), a group of brain disorders with few treatment options. These disorders are characterized by changes in behaviour, cognition, language, or movement.

In a new paper published in medicine cell reports, Mayo Clinic researchers and members of the Advanced Research and Treatment team in frontotemporal lobe degeneration and longitudinal evaluation of familial frontotemporal dementia studies or ALLFTD subjects report that NfL light is a useful biomarker of frontotemporal dementia.

This biomarker may allow for faster diagnosis and participation in early treatment clinical trials.

“There is currently no truly effective treatment for patients with FTD,” says Tanya Gendron, M.D., a Mayo Clinic neuroscientist and corresponding author of the study.

“It is believed that potential treatments will be most beneficial for individuals when they are taken early in the course of the disease – soon after symptoms appear or even before symptoms ideally appear. Unfortunately, this is not always possible because there is often a delay in diagnosing FTD, And there are still no surefire ways to predict when someone might start to develop symptoms.”

The researchers set out to conduct a comprehensive investigation of neurofilament plasma light across all frontotemporal dementia syndromes in a large group of approximately 1,000 participants.

Related disorders grouped under the frontotemporal dementia umbrella include:

  • Frontotemporal dementia (a behavioral variant)
  • Primary progressive aphasia
  • Progressive supranuclear paralysis
  • Corticobasal syndrome and related variants

All of these disorders involve degeneration and shrinkage of the frontal and temporal lobes of the brain.

The researchers measured the amount of light neurofilament protein in plasma collected from three groups:

  • Healthy people who do not have a genetic mutation known to cause frontotemporal dementia
  • Healthy people with a genetic mutation that causes frontotemporal dementia
  • People with frontotemporal dementia syndrome

The researchers found that plasma neurofilament light levels were elevated in all types of frontotemporal dementia, and in people who had mutations but had not yet developed symptoms.

They found that in patients with frontotemporal dementia, higher levels of neurofilament light were associated with increased disease severity.

This biomarker may allow for faster diagnosis and participation in early treatment clinical trials. credit: researchers

The researchers also found increased levels of the protein before people developed symptoms. Because it is associated with different types of frontotemporal dementia and at different stages of disease progression, the researchers say that plasma neuron light will eventually be useful in improving clinical trial design.

This is because it will make it easier for patients to participate early in the course of their disease. This will provide a means to measure the therapeutic benefit of the potential treatments being tested.

says Leonard Petrushelli, PhD, a Mayo Clinic neuroscientist and corresponding author on the study.

“This database, available to FTD researchers, is sure to launch new lines of investigation on FTD spectrum disorders.” Dr.. Petrucelli is the Ralph B. Neuroscience Professor. and Ruth K. Abrams.

The researchers say their findings could benefit other areas of research on neurodegenerative diseases, with neurofilament light being a vital indicator for many of these diseases. Mayo Clinic researchers are also looking at nerve leads for stroke, COVID-19, and other neurodegenerative diseases.

About this research on neurodegenerative diseases news

author: Linda de Wedt
source: Mayo Clinic
Contact: Linda de Widt – Mayo Clinic
picture: The image is attributed to the researchers

original search: open access.
“Comprehensive cross-sectional and longitudinal analyzes of plasma neurofilament light across FTD spectrum disturbances” by Tania F. Gendron et al. Medicine Cell Reports

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Comprehensive cross-sectional and longitudinal analyzes of plasma neurofilament light across FTD spectrum disorders


  • Plasma NfL levels increase before symptoms of frontotemporal dementia (FTD) appear.
  • Plasma NfL can facilitate early diagnosis of FTD
  • Plasma NfL levels correlate with clinical indicators of FTD disease severity
  • Plasma NfL shows promise as a biomarker and predictability of FTD


Treatment development for frontotemporal dementia (FTD) is hampered by a lack of susceptibility, diagnostic and prognostic biomarkers. Neural filament light (NfL) in blood shows promise as a biomarker, but studies have largely focused only on primary FTD syndromes, often pooling patients with different diagnoses.

To expedite the clinical translation of NfL, we are providing resources for the ARTFL LEFFTDS study of longitudinal frontotemporal degeneration (ALLFTD) and a thorough investigation of plasmatic NfL across FTD syndromes and in pre-symptomatic FTD mutation carriers.

We find that plasma NfL is elevated in all of the studied syndromes, including mild cases. increases in presymptomatic mutation carriers prior to phenotypic inversion; It is related to disease severity indicators.

By facilitating the identification of individuals at risk for apparent reversal, and early diagnosis of FTD, plasma NfL can aid in the selection of participants for prevention or early treatment trials.

Moreover, its predictive utility will improve patient care, clinical trial efficiency, and treatment outcome estimates.

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