Schmahmann Lab Update 2017

Massachusetts General Hospital Ataxia Unit and

Laboratory for Neuroanatomy and Cerebellar Neurobiology

Annual Update

Jeremy D. Schmahmann, M.D.

August 12th 2017

The MGH Ataxia Unit and Laboratory for Neuroanatomy and Cerebellar Neurobiology continue to thrive. The Ataxia Unit is the centerpiece of our clinical, research, and teaching effort. We provide care to over 1,500 patients with all forms of cerebellar disorders. Our patients and families come from the Boson area and throughout New England, as well as across the US and internationally.

I am joined in the Ataxia Unit by Drs. Christopher Stephen a new member of the MGH faculty who completed his Ataxia and Movement Disorders Fellowship at the MGH last year.  Our Ataxia Fellow this year is Dr. Anoopum Gupta, a former MGH neurology resident. We have 7 Fellows rotating through the Ataxia Unit this year, coming from Movement Disorders, Neuropsychiatry / Behavioral Neurology, and General / Immune Neurology – all helping us to provide care to patients with ataxia and cerebellar disorders. Neurology residents, medical students and research assistants also rotate through the Unit, adding to our important educational mission. We are supported by superb clinical coordinators – Marygrace Neal, Tracey Goddard and Sarah Obas. Our teaching conferences are lively and open to other movement disorder specialists, cognitive neurologists, and colleagues from the fields of speech, occupational and physical therapy. Our patient care mission relies on superb collaborations with faculty at the MGH in neurosurgery, neuropsychology, psychiatry, cardiology, urology, pediatrics, and radiology, and at the Massachusetts Eye and Ear infirmary in neuroophthalmology and audiology. Our treatment options include the innovative skills of the MGH physical therapy, occupational therapy and speech therapy departments, and the physiatry team at the Spaulding Rehabilitation Hospital.

The Lab is active, growing, and at the cutting edge of clinical and cognitive neuroscience of the cerebellum world-wide. See the links to publications on the Published Works pages of our MINDlink website, and the list of publications on Medline at

A number of new insights into the ataxias have come out of the natural history study of the spinocerebellar ataxias, a project we collaborate on with the new ataxia units that have sprung up around the country in recent years. We are actively enrolling patients in the reinvigorated natural history study of the spinocerebellar ataxias together with the National Ataxia Foundation.

We care for a large number of people with the cerebellar form of multiple system atrophy, and are part of an international natural history study of MSA. With Hui Wang and our colleagues at MGH’s Martinos Center for Biomedical Imaging we are developing new imaging techniques to study MSA, which will add to our ability to diagnose and treat this disorder. We have developed simple   imaging measures to help make the diagnosis early on in the course of this neurodegenerative disorder. These are all important advances that will be essential as treatments become available,

The MGH Ataxia Unit has entered the clinical trial space! With our new Clinical Research Coordinator, Samantha Pierce, we are a leading site nationally with Biohaven Pharmaceuticals, studying a new treatment for cerebellar ataxia. The study is moving from its double-blind phase to the open label year-long extension, and we hope to see results of the study by the fall of 2018.

Together with former post-doctoral fellow Catherine Stoodley, now at American University in

Washington, and with Xavier Guell, post-doctoral fellow with our Lab and the Gabrieli lab at MIT, we have demonstrated novel observations of how cerebellum is organized in health and disease. We accomplished this using brain MRI techniques such as voxel based morphometry, and task-based and resting state functional connectivity MRI. This work extends our longstanding observation that parts of cerebellum are engaged in motor control (ataxia of movement) whereas much of the human cerebellum is involved in intellect and emotion – and when damaged leads to the cerebellar cognitive affective syndrome (Schmahmann’s syndrome).


With the help of the Ataxia Telangiectasia (AT) Children’s Project, postdoctoral fellow Franziska Hoche and our team of investigators has shown for the first time the nature and extent of problems with cognition and emotional processing in children and adolescents with AT, a rare but disabling condition. Families flew from around the country to participate in this study, because they are concerned about these aspects of AT – our findings will help these patients and families cope and take advantage of school and rehabilitation opportunities to maximize quality of life and their inherent capabilities.


We are working with colleagues and foundations dedicated to Chiari malformation making inroads into understanding and treating the cognitive and neuropsychiatric symptoms that occur in this disorder. This is a completely new frontier in neurology that we are pioneering, and it has the potential to have far-reaching impact in the care of thousands of patients across the country dealing with this disorder. In Chiari malformation the cerebellum lies too low in the skull and it is compressed and damaged, which we find is related to neuropsychiatric and cognitive symptoms which have been overlooked or missed. Stay tuned for how this story unfolds in the next few years.


Our team has developed novel scales for the assessment of the motor, cognitive and emotional effects of cerebellar disorders, essential for the diagnosis and treatment of the many manifestations of cerebellar ataxia. The cerebellar cognitive affective syndrome has been difficult to detect with currently available cognitive screening tests, so we studied over 100 cerebellar patients and an equal number of healthy people to develop a brief screening instrument that can accomplish this. There is a great need for this scale and it will make it possible to address the nonmotor manifestations of cerebellar dysfunction that affect people’s lives. We are also in the process of developing a neuropsychiatric scale that can be helpful in monitoring the other nonmotor manifestations of cerebellar disorders, because by addressing these needs we can make a positive impact in the lives of our patients.


Together with colleagues at MIT’s Computer Science and Artificial Intelligence Laboratory, we are developing innovative technology for automated real-time assessment of ataxia.


With Mark Halko, Faranak Farzan and Alvaro Pascual-Leone at the Beth Israel Deaconeess Hosital, we have developed a new understanding of ow the cerebellum is linked functionally to the cerebral hemispheres, and why our previous studies of transcranial magnetic stimulation applied to the cerebellum produced improvements in patients with schizophrenia. The role of cerebellum in schizophrenia and autism is now a major focus in neuroscience, having stated in the precursor to our lab in the 1980s.


Pharmaceutical companies are coming to us to help devise and test new treatments for ataxia – a welcome development after all these years of ataxia as an orphan and untreatable condition.


We are also very gratified that the 4-volume textbook – The Handbook of the Cerebellum and Cerebellar Disorders (Springer) that we edited along with 4 other international scientist has had over 50,000 downloads since its publication in 2016.


Please see the other pages on the MINDlink website that we will be keeping current going forwards, with links to abstracts of papers, full text articles of open access papers, and news events from the lab.


Follow us on social media: at Facebook (MINDlinkFndtn), Twitter (@MINDlinkFound), and Instagram (mindlinkfound). If you would like us to stay in touch with you by email to keep you up to date on our progress please send us an email at

All this work is heavily dependent on the ongoing support of our MINDlink donors. With your commitment to this effort we will continue to advance the understanding, treatment, and cures for disorders of the cerebellum and related conditions. We can’t do this without you.

Thank you.

Jeremy D. Schmahmann, MD


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