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April 21, 2022
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New blood biomarker may lead to early diagnosis of frontotemporal dementia

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A collaboration between Mayo Clinic researchers and a team dedicated to researching frontotemporal dementia has identified neurofilament light as a useful biomarker for the disease.

“There is at present no truly effective treatment for patients with [frontotemporal dementia (FTD)],” Tania Gendron, PhD, a neuroscientist at the Mayo Clinic and corresponding author of the study, said a Mayo Clinic press release. “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.

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“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.”

According to a paper published in Cell Reports Medicine, Gendron and colleagues in the Advancing Research and Treatment in Frontotemporal Lobar Degeneration and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects studies (ALLFTD Consortium) measured plasma neurofilament light protein in a large cohort of nearly 1,000 participants, which included healthy individuals, people with a gene mutation that causes FTD and people with FTD syndrome.

Researchers found elevated levels of plasma neurofilament light protein in patients with FTD, as well as in asymptomatic people with mutations, and noted that higher levels of neurofilament light were associated with greater disease severity. They also identified elevated levels of the protein just before people became symptomatic.

According to Gendron and colleagues, their findings may improve the design of future clinical trials and inform other areas of research on neurodegenerative diseases, with neurofilament light serving as a biomarker for many of those diseases.

“Through this study, we have created a major informational database comprising cross-sectional and longitudinal [neurofilament light]data, along with demographic, genetic, clinical and neuropsychological data,” Leonard Petrucelli, PhD, a Mayo Clinic neuroscientist and corresponding author on the study, said in the release.

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