Advanced MRI technique finds early warning signs of FA in kids
Brain imaging marker linked to increased cell activity
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A brain imaging marker linked to increased activity of support cells in the brain may help detect early disease activity in children with Friedreich’s ataxia (FA), a study found.
Researchers using an advanced MRI technique found that levels of the marker, myo-inositol, were elevated in regions involved in movement, even when a marker of nerve cell health was normal.
The findings suggest that changes in these support cells, called glia, may occur early in the disease course and could be tracked using noninvasive imaging to assess disease progression and responses to treatment.
The study, “Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich Ataxia: evidence from HERMES-edited MR spectroscopy,” was published in NeuroImage: Clinical. The work was funded by the Friedreich’s Ataxia Research Alliance.
FA is a genetic condition that damages the nervous system, leading to progressive FA symptoms involving coordination and movement.
Researchers examine brain changes
Previous studies have shown that myo-inositol levels are elevated in the cerebellum, a brain region that helps control coordination and is known to be affected in FA. At the same time, levels of N-acetylaspartate (NAA), a marker of nerve cell health, are often reduced in this region.
However, less is known about changes in other brain areas involved in movement.
Researchers at the Children’s Hospital of Philadelphia and the University of Pennsylvania examined the motor cortex, a part of the brain that helps control voluntary movement, in 16 children with FA and 15 age-matched kids without the condition.
Brain scans showed that children with FA had higher levels of myo-inositol in the motor cortex than their peers. This molecule is commonly linked to glial activation, or gliosis, which can occur when the brain is under stress or responding to damage.
NAA levels in the same brain region were similar between the two groups, suggesting that changes in glial cells may occur before clear signs of nerve cell damage can be detected.
The researchers said the findings support the idea that myo-inositol could serve as a potential biomarker to monitor disease activity in FA, particularly in its earlier stages. If that’s confirmed in larger studies, this imaging marker could help researchers better track the progression of FA and evaluate whether experimental treatments are effective.
The team measured two other markers of brain activity, glutathione (GSH) and gamma-aminobutyric acid (GABA), but neither showed significant differences between children with and without FA.
The scientists cautioned that their study was limited to a small number of patients analyzed with a specific imaging technique, noting a need for further work to validate and expand on the results.
