Every year on the last day of February, the world comes together to recognize Rare Disease Day—a global movement dedicated to raising awareness and advocating for the lives of millions living with rare diseases.
Jefferson Moss Rehabilitation Research Institute Investigator, Amanda Therrien, PhD, director of the Sensorimotor Learning Laboratory, has spent most of her career studying degenerative cerebellar ataxias, which can result from several rare diseases. Many genetic, autoimmune, and idiopathic conditions cause cerebellar ataxias, and while each may affect a relatively small number of individuals, together they affect tens of thousands of people in the United States [1].
As the name suggests, cerebellar ataxia results from damage to a part of the brain called the cerebellum. Ataxia, derived from the Greek words for “without order,” describes a disabling condition of impaired movement coordination that affects all body movements—from walking and reaching, to speaking and moving the eyes. Currently, there are no widely effective pharmacological treatments for cerebellar ataxia, which leaves physical and other rehabilitation therapies as the main options for managing the condition. Thankfully, rehabilitation research over the last 15 years has significantly advanced our understanding of effective rehabilitation strategies for cerebellar ataxia. For example, we now know the importance of ensuring an adequate level of challenge, particularly in balance training [2], and the unique benefits that cardiovascular exercise may have for this patient population [3].
Yet unknowns continue to challenge the field. Many neurologic physical therapy techniques attempt to leverage mechanisms of motor learning to drive changes in behavior. The cerebellum plays a critical role in mediating a particular motor learning mechanism, called adaptation, and may play a role in other learning mechanisms. A focus of Dr. Therrien’s research has been to dissect the cerebellum’s role in different motor learning mechanisms, with the hope of identifying one or more spared mechanisms that could be leveraged in a physical therapy intervention specifically developed for ataxia. To expand the reach of her research, Dr. Therrien has also begun collaborating with the Jefferson Movement Disorders Center, which was recently named an Ataxia Center of Excellence by the National Ataxia Foundation.
At the Institute, we know that research can be transformative in improving care for people with rare diseases, like those that cause cerebellar ataxia. On Rare Disease Day, we wish to celebrate all individuals living with a rare disease and champion the efforts of researchers and clinical providers working to ensure that every individual with rare diseases feels seen and cared for.
References:
1. Subramony SH. Degenerative Ataxias: challenges in clinical research. Ann Clin Transl Neurol. 2016 Nov 17;4(1):53-60. doi: 10.1002/acn3.374. PMID: 28078315; PMCID: PMC5221462.
2. Keller JL, Bastian AJ. A home balance exercise program improves walking in people with cerebellar ataxia. Neurorehabil Neural Repair. 2014 Oct;28(8):770-8. doi: 10.1177/1545968314522350. PMID: 24526707; PMCID: PMC4133325.
3. Barbuto S, Lee S, Stein J, Kuo SH, Quinn L, Spinner M, Stern Y. Home Training for Cerebellar Ataxias: A Randomized Clinical Trial. JAMA Neurol. 2025 Nov 1;82(11):1162-1170. doi: 10.1001/jamaneurol.2025.3421. PMID: 40946705; PMCID: PMC12434599.