Testing for Protein in Blood Receives More Support as Biomarker for Brain Disorders

Frontotemporal dementia (FTD) is a group of brain disorders characterized by changes in behavior, cognition, language or movement that has few treatment options. These disorders involve degeneration and shrinkage of the frontal and temporal lobes of the brain. Now, a test of protein in the blood has received further support as a biomarker for patients diagnosed with FTD.

A study by researchers at the Mayo Clinic (Rochester, MN, USA) has reaffirmed that neurofilament light (NfL) is a useful biomarker for FTD. This biomarker may allow for quicker diagnosis and participation in early treatment clinical trials. The researchers set out to conduct a comprehensive investigation of plasma NfL across all FTD syndromes in a large cohort of approximately 1,000 participants.

For their study, the researchers measured the amount of neurofilament light protein in plasma collected from healthy people with no gene mutation known to cause FTD; healthy people with a gene mutation that causes FTD; and people with a FTD syndrome. The researchers found plasma NfL levels were elevated in all types of FTD, and in people who had mutations but hadn't shown symptoms yet. They found that in patients with FTD, higher levels of NfL were associated with greater disease severity. The researchers also found increased levels of the protein just before people became symptomatic.

Because it's relevant across different types of FTD and at different stages of disease development, the researchers say plasma NfL will ultimately be useful in improving the design of clinical trials. That's 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. The researchers say their findings could inform other areas of research on neurodegenerative diseases, with NfL being a biomarker for many of those diseases. The researchers also are investigating NfL for stroke, COVID-19 and other neurodegenerative diseases.

"Through this study, we have created a major informational database comprising cross-sectional and longitudinal NfL data, along with demographic, genetic, clinical and neuropsychological data," said Leonard Petrucelli, Ph.D., a Mayo Clinic neuroscientist and corresponding author on the study. "This database, available to FTD researchers, is sure to ignite new lines of investigation on FTD spectrum disorders."

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