The Massachusetts General Hospital (MGH) Ataxia Unit was the first and is now the most active such clinic in the US, providing comprehensive care to patients across the age spectrum who have disorders of cerebellum and related conditions. Started in 1994, and under the leadership of its founding director Jeremy Schmahmann, MD, the Unit has grown to three full-time attending ataxia neurologists and six Fellows who rotate through the Unit from the neurology divisions of movement disorders, general neurology, and behavioral neurology/neuropsychiatry. The clinic is supported by dedicated staff who welcome patients into the care program and help them navigate the ataxia health care system. From the first appointment, Dr. Schmahmann and his team approach each patient thoughtfully, seeking to provide a precise diagnosis and listening to patients and families to develop tailored care plans. The Unit works closely with physical, occupational and speech therapy rehab services throughout Partners Healthcare and beyond, and over the past year has brought on a genetics counselor and a palliative care neurologist. These team members complement the consulting care teams already in place from neuro-ophthalmology, cardiology, urology, neurosurgery, neuropsychology, pediatric neurology, endocrinology, orthopedics, neurogenetics, neuroradiology, and neuropathology.
Research Efforts
The Ataxia Unit’s research arm is the Schmahmann Laboratory for Neuroanatomy and Cerebellar Neurobiology, which is world-renowned for its leading role in defining the importance of the cerebellum to cognition and emotion. Research is conducted by three principal investigators who are also attending physicians in the clinic – Dr. Schmahmann, Christopher Stephen, MBChB, and Anoopum Gupta, MD – and in-house research teams including a lab manager, doctoral students and post-doctoral fellows, clinical research coordinators, undergraduate and medical students, and neurology residents and fellows. The team also collaborates with researchers across the MGH and Partners / Harvard / MIT / Boston University institutions. Over the past year, the lab has produced 22 original publications in major neurology and neuroscience journals, two chapters in neurology texts, and published a new book on cerebellar disorders. Lab members have presented work in national and international conferences, teaching sessions, and continuing education courses, and many have won travel grants and prizes for their excellence and innovation. The Lab has a strong following on social media (Facebook, Twitter, Instagram), has established an email account for people interested in new developments (cerebellum@mgh.harvard.edu), and in the coming year will be partnering with WBZ celebrity Jordan Rich and the originators of the #kNOw ataxia blog to further spread the word about ataxia, cerebellar disorders, and the promising new developments in the field of cerebellar neurology.
Some of the Lab’s ongoing or recently completed projects include:
- Clinical trial with Biohaven Pharma of trigriluzole for the treatment of the symptoms of ataxia
- Dialogue with pharmaceutical companies and device manufacturers to develop new ataxia treatments
- Natural history study of the spinocerebellar ataxias with the National Ataxia Foundation
- NIH funded natural history study of SCA 1 and 3
- NIH funded study of MRI biomarkers of ataxia progression using MRI scans in patients with SCA 1 and 2
- Collaboration with the European Spinocerebellar Ataxia consortium and the Global SCA project
- Leadership on the Multiple System Atrophy Global Task Force, and a natural history study of MSA
- Development of MRI biomarkers of progression in MSA
- Collaboration with local colleagues performing bench research towards treatment of MSA
- Publication of the new Cerebellar Cognitive Affective / Schmahmann syndrome scale (translated into 6 languages)
- Study of the importance of the cerebellum for movement and cognition in multiple sclerosis
- Description of the cognitive and emotional challenges in children with ataxia telangiectasia
- Defining the nature of neurological disorders in adults and children with cerebellar agenesis
- Describing the functional topography (organization) in the cerebellum of movement and cognition related areas
- Work showing that the cerebellum is a highly arranged little brain just like the cerebral hemispheres
Impact of Philanthropy
All this effort is focused on and dedicated to the improvement of the health and well-being of patients and families dealing with ataxia and other disorders of the cerebellum. There is a palpable excitement in the international ataxia community about the new treatments on the horizon. The MGH Ataxia Unit and Schmahmann Lab are at the forefront of this effort. The team is supported in part by grants and foundations, but it would have been impossible to have achieved this level of productivity and success without philanthropic commitment. Where grants tend to be narrowly focused on specific projects, philanthropy provides more flexible funding that Dr. Schmahmann and the cerebellum team can apply to priority research and clinical initiatives to advance the mission of the Ataxia Unit. Thank you for your ongoing interest in and support of the MGH Ataxia Unit and Schmahmann Lab. Our patients and their families are counting on you!
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