Since it was identified through genetic testing in the early 2000s, ataxia with oculomotor apraxia type 2 (AOA2) has become the second most commonly diagnosed form of recessive ataxia. But while more individuals are being diagnosed with AOA2, research on the disease remains scant. That paucity in data shouldn’t last long, however, thanks to a team of researchers at the University of Minnesota’s world-renowned Center for Magnetic Resonance Research (CMRR).
Under the direction of ataxia researcher Gülin Öz, Ph.D., radiology research associate Isabelle Iltis, Ph.D., is collecting information from people with AOA2 as well as healthy volunteers about the neurochemicals and brain regions involved in AOA2.
Using magnetic resonance spectroscopy, a scan that can measure neurochemical defects within the brain, Iltis hopes to identify which neurochemicals are playing a role in the disease and which brain regions are most affected by the defects. Study participants also receive a neurological exam and undergo a lumbar puncture for spinal fluid analysis.
“Every type of ataxia has its own neurochemical ‘fingerprint,’ so to speak,” explains Iltis. “With the MR spectroscopy and other data, we can associate specific neurochemical defects with this specific form of ataxia.”
Since May 2006, Iltis—together with CMRR research coordinator Diane Hutter, R.N., and collaborators Khalaf Bushara, M.D., and Christopher Gomez, M.D., Ph.D.—has recruited eight patients with AOA2 and about 23 healthy volunteers to participate in the study. In less than three years, she has learned that the two regions of the brain most impaired by AOA2 are the vermis and the cerebellar hemisphere, both located in the cerebellum.
“We now have a neurochemical profile of AOA2 within these two regions of the brain, and it’s distinctly different from what we see with other types of ataxia,” she explains.
People with AOA2 have come from all over North America to participate in this study. Kory Tabor, a resident of Madison, Wisconsin, is one of them. Tabor was the first person in the United States to be diagnosed with AOA2. Now 31 years old, she stays positive by participating in research.
“The way I deal with it is to realize that I can do something about this disease, that I can be involved in finding new things that will help people who may not yet know they have AOA2,” she says.
In developing a neurochemical profile of AOA2, Iltis hopes that one day degeneration in the cerebellum can be detected earlier—even before symptoms appear.With earlier detection, there’s a better chance of intervening with a treatment before symptoms become debilitating, she says.
And for now, Iltis is pleased to have the opportunity to spend time with a dedicated group of research volunteers.
“I am really impressed with the people who are participating in this study,” she says. “They are really amazing, motivated individuals.Whenever a patient is coming in for a scan, I know I am going to meet a really incredible, enthusiastic person that day. It’s a nice way to work.”