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Dystonia News

Latest Developments
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Right-Handed Cervical Dystonia Patients Needed for Study

The Motor Neuroscience Lab at Michigan State University is recruiting right-handed adults with cervical dystonia who are currently undergoing treatment using botulinum neurotoxin injections for a study examining how the brain controls arm movements. Participants will be asked to move a joystick or robotic handles to control a cursor on a computer screen while their […]

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Individuals with Dystonia Needed for Brain Function Study

The Center for Neurosciences at The Feinstein Institute for Medical Research conducts one of the nation’s leading brain imaging programs directed by neuroscientist, David Eidelberg, MD. The program is internationally recognized for developing new techniques to identify and measure patterns and circuits of brain function in people with disorders such as Parkinson’s disease, Huntington’s disease, […]

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Researchers Need Adult & Child Volunteers

Do you have the genetic forms of dystonia known as DYT6 (THAP1) or DYT25 (GNAL)? Have you or your child had previous positive genetic testing for either DYT6 (THAP1) or DYT25 (GNAL)? If yes, you and family members, aged 7 or older, can become part of the Dystonia Partners Research Bank at Massachusetts General Hospital. […]

Dystonia Events

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Dystonia Advocacy Day

March 26-27, 2019

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Twin Cities Zoo Walk

June 22, 2019

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Current Dystonia Research Investigations

The Dystonia Medical Research Foundation (DMRF) prides itself on a long history of supporting and stimulating dystonia research.
Neuroanatomical Substrates for Disrupted Eif2alpha Signaling in Dystonia

Although dystonia is among the top three most common conditions evaluated in neurological movement disorder clinics, the precise mechanisms for dystonia are poorly understood and there are no known disease-modifying treatments. This project proposes to advance our understanding of dystonia mechanisms and to explore specific cellular pathways to target in order to treat the disease. Observations in multiple forms of dystonia have implicated a specific cellular pathway in the brain as a central source of dysfunction. This pathway is involved in responding to cellular stressors and mediating plasticity responses in the brain. This study proposes to identify the brain regions, cell types, and developmental periods in which the pathway’s activation is disrupted in dystonia mouse models and to test whether a genetic manipulation that would boost the pathway’s activity will reduce negative effects of the DYT1 mutation. This knowledge will advance our understanding of the cellular mechanism of dystonia and provide key proof-of-principle experiments to determine whether targeting the pathway is beneficial.

Nicole Calakos, MD, PhD Duke University (USA)
Myoclonus-Dystonia, a Study of Motor and Non-Motor Symptoms: Is there a Role for Serotonin?

This study will compare the present symptoms of myoclonus-dystonia (M-D) patients to the symptoms they had 10 years ago to assess how the symptoms evolve over time. Since M-D patients frequently experience non-motor symptoms including psychological difficulties, sleep disturbances, and fatigue, it is believed these symptoms are part of the disease, not secondary consequences, and may result from an altered metabolism of a brain neurotransmitter called serotonin. This study will analyze serotonin levels in the blood of M-D patients, healthy controls, and cervical dystonia patients. A genetic study of serotonin-related genes will also be performed.

Marina A.J. de Koning-Tijssen, MD, PhD University of Groningen (The Netherlands)
Striatal Neuron Activity Patterns in Dystonia

The causes of dystonia are not clearly understood but abnormal signaling within the striatum, a region of the brain that controls movement, is thought to be involved. It is now possible to record the firing patterns of dozens of neurons simultaneously in the striatum of awake dystonic mice to reveal the abnormal neural code associated with dystonia. Technology known as in vivo microscopy will be used in mice with dystonia to visualize the firing patterns of neurons within the striatum. Mice will be recorded while they are dystonic and after they have been treated with drugs that alleviate the dystonia. By comparing the different firing patterns with and without dystonia, these experiments will reveal the neural code associated with dystonia for the first time. In the short term, these experiments will provide important information that could be useful to guide stimulation parameters for deep brain stimulation in dystonia patients. In the long-term, understanding the neural code of dystonia will provide important information for the development of novel therapeutics that target the abnormal neural code.

Ellen Hess, PhD Emory University (USA)
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