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In a groundbreaking imaging study just published in the journal Brain, researchers made unexpected discoveries about brain activity that now have them thinking about new treatments that could help people with ataxia-telangiectasia (A-T) control their movements better.

Nora Volkow, MD, Director of the National Institute on Drug Abuse at the National Institutes of Health, spearheaded the effort to study brain activity in A-T patients and healthy controls using Functional Magnetic Resonance Imaging (fMRI) and Positron Emission Tomography (PET) scans. The work was done at Brookhaven National Laboratory in New York. The A-T Children’s Project recruited 10 adults with A-T and 19 non-affected adult relatives, including siblings and parents, to participate in the study.

The study revealed widespread differences in the brain activity of people with A-T in several brain regions. Not only did the cerebellum have reduced activity as was expected, but remarkably, the globus pallidus had increased activity. Both of these regions are involved in regulating movement. As A-T researchers and clinicians around the world now plan to review these data and confirm the findings in additional patients, other scientists will be considering therapies that may normalize the unusual brain activity that was observed. Approaches may include deep brain stimulation as well as drugs that are already given to patients with other diseases.

Besides Dr. Volkow and her colleagues, the study’s authors included Tom Crawford, MD, neurologist at the A-T Clinical Center at Johns Hopkins and Brad Margus, volunteer president and founder of the A-T Children’s Project.

On-line journal abstract; original study announcement.

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