Dystonia Investigators Pursue Pathways to the Cure

Latest Grant Projects Explore Brain Circuits & Networks

3/23/18

The Dystonia Medical Research Foundation (DMRF) announced its latest grant awards to advance research toward improved treatment options and ultimately a cure. Dystonia is the third most common movement disorder, affecting no fewer than 250,000 Americans and potentially millions worldwide. For more than 40 years, the DMRF has pushed the envelope of what is known about dystonia by funding research projects and creating opportunities for investigators to establish careers in the dystonia field. This year’s latest grant projects reflect exploratory studies to identify dystonia-specific neural pathways and networks and brain mechanisms that intersect with these pathways and networks.

Awardees are as follows:

Striatal Neuron Activity Patterns in Dystonia
Ellen Hess, PhD, Emory University

Dr. Hess and team are using in vivo microscopy to reveal the abnormal neural code associated with dystonia. This will be done by recording the firing patterns of dozens of neurons simultaneously in the striatum of awake dystonic mice. In the short term, these experiments will provide important information that could be useful to guide stimulation parameters for deep brain stimulation therapy 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 abnormal brain activity.

Integrative Network and its Proprioceptive Modulation to Probe Physiology and Therapy of Cervical Dystonia
Aasef Shaikh, MD, PhD, Case Western Reserve University

Cervical dystonia, affecting the neck muscles, is among the most common forms of dystonia. Dr. Shaikh hypothesizes that one of the contributing factors of cervical dystonia is a disordered sense of body position (proprioception). This study will focus on proprioception and strategies to reduce proprioceptive impairment to help treat dystonia. The goal of this project is to define non-invasive, painless, and cost-effective therapies based on a novel, unifying network model detailing the biological mechanisms of cervical dystonia.

Three-Dimensional Network Architecture of Dystonia
An Vo, PhD, The Feinstein Institute for Medical Research

Dr. Vo is exploring whether dystonia-related brain pathways can be identified using resting state functional MRI (magnetic resonance imaging). She is also exploring whether such pathways relate to underlying anatomical connections. The proposed work will advance the understanding of brain network architecture in dystonia. The new information will help identify targets at the network level for therapeutic and individually customized treatment.

Click here for a complete list of current DMRF-funded investigations.

Dystonia is a chronic, often disabling, neurological disorder marked by extreme, involuntary muscle contractions that cause abnormal body movements and postures. Common signs include abnormal movements of the head and neck, excessive blinking, a breathy or choking voice, hand cramps, or a twisted foot. Because dystonia is not better known, symptoms are often mistaken for mental illness, intoxication, or poor social skills. Dystonia impacts people of all ages and backgrounds. There is currently no cure, and though treatments exist there is no single therapy that benefits even a majority of patients.

The Dystonia Medical Research Foundation (DMRF) is the leading dystonia patient advocacy organization. Founded in 1976, the DMRF mission is to advance research toward improved treatments and a cure, promote education and awareness, and provide support resources to affected individuals and families. The DMRF can be reached at www.dystonia-foundation org or 800-377-DYST (3978).

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