For many of us with dystonia, a dog offers the opportunity to improve our quality of life. Dogs (and other pets) are not only faithful companions and friends, always there without question and judgment, they also offer the support needed to help their owners simply get through the day, a task many often find physically […]
The Dystonia Medical Research Foundation (DMRF) announced its latest post-doctoral fellowship awards to advance research toward improved dystonia treatments and a cure. For more than 40 years, the DMRF has funded dystonia science and created opportunities for young investigators to establish careers in this growing field. Dystonia is the third most common movement disorder, affecting […]
A new study led by Antonio Pisani, MD, PhD of University of Rome Tor Vergata, offers new insights into the role of dopamine in DYT1 dystonia. It may also explain why DYT1 dystonia patients vary in their response to dopamine-boosting medications such as levodopa. The work of Dr. Pisani and his group may inspire new drug […]
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Current Dystonia Research Investigations
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.
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.
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.