We now know that ataxia is a serious condition that affects coordination, speech, fine motor skills and eye movement, and that it usually involves damage to the cerebellum.
But in the past, patients with ataxia would show up at doctors’ offices with these symptoms and physicians had to send them home with no answers, telling them they should expect to end up in wheelchairs.
Jeremy Schmahmann, MD, has been a pioneer in cerebellar ataxia clinical care and research for over 35 years. In 1994 he founded the Massachusetts General Hospital Ataxia Unit, the first clinic of its kind to focus exclusively on disorders of the cerebellum.
The unit has expanded greatly since then. In recognition of its 25th anniversary, Schmahmann is launching the Massachusetts General Hospital Ataxia Center, which seeks to provide comprehensive, personalized and patient-centered care for those with ataxia.
A New Way of Thinking About the Cerebellum
When you see a picture of the human brain, you’ll notice two very distinct structures. There’s the cerebrum, the largest part of the brain that is divided into lobes, and the cerebellum, Latin for ‘little brain’, located at the back of the brain near the brainstem.
For 200 years scientists thought that the cerebellum only controlled motor function, but Schmahmann believed there was more to the story.
In the 1980s, he was an outsider in the scientific community trying to convince scientists that the cerebellum also played a role in emotion and cognition.
It took almost 10 years for his work to be recognized, which happened following publication of his team’s groundbreaking findings on cerebellar cognitive affective syndrome (CCAS), a condition in which damage to the cerebellum results in linguistic, spatial, emotional and executive function impairments.
The Transformation of Ataxia Care
Schmahmann and his team started recruiting ataxia patients for studies in the early 1990s, but research and treatment options were limited. Patients would go from doctor to doctor seeking answers to no avail.
Incremental care—monitoring patient progress and making small adjustments to optimize comfort—was the only option.
Discovering the CCAS and the anatomy and theory of the cerebellar role in higher function changed everything.
While continuing his research, Schmahmann collaborated with patients and their families to help start the local chapter for the ataxia support group with the National Ataxia Foundation.
Over time he developed a large patient base, and the ataxia unit has grown to include an experienced team of faculty members, clinical fellows and students at all levels of training, clinical and research coordinators; rehabilitation therapists; consulting physicians in related disciplines; an ataxia genetics counselor; an ataxia nurse and an active research lab in functional neuroanatomy and cognitive neuroscience.
The newly rebranded Mass General Ataxia Center will serve as an international leader in both ataxia care and research and is one of the leading sites for national recruitment for several clinical trials.
But the most exciting development is how Schmahmann has been able to partner with patients to simultaneously advance our understanding of ataxia through research and improve patient care.
“The people who have these diseases are experts by experience. They are our research collaborators, because with their help we can get to the next stage.
I think that’s a really important conceptual shift in how we honor the patients and their families with whom we work: to acknowledge the fact that our central mission is about the patients and their families, and we are in this together.”Jeremy Schmahmann, MD
The Center’s researchers are now asking patients to help them design symptom surveys and chart their experiences throughout the treatment process.
The goal in five years is to have powerful new therapies for ataxia that can be monitored not only with quantitative instruments and measurements of how patients are progressing, but also patients’ subjective impression of the treatments, which Schmahmann says could make a substantial difference.
An increased understanding of the cerebellum improves the lives of patients with ataxia, and it also “feeds back on to other diseases that have been intractable so far, such as schizophrenia, autism, depression and bipolar disorder, which have now been shown to have a link to the cerebellum,” says Schmahmann.
He is confident that mental health will be impacted by a deeper understanding of the cerebellum, which could lead to new strategies for treatment and prevention and improvements in quality of life.
“The field of cerebellar neurology is blossoming. There’s an unmet need, and an underserved patient population. We now have new interventions, and while we’ve been at this for a long time, I am more enthusiastic than I’ve ever been. It’s a very exciting time.”Jeremy Schmahmann, MD