MRI in Young-onset Dystonia
We are actively recruiting children and young adult patients who suffer from dystonia to participate in our MRI study of the brain. When a person had normal movement and motor development, and their pre-dystonia functioning was normal, we refer to that form of dystonia as “primary.” Most patients with primary dystonia will have had an MRI as part of their diagnostic journey, and these studies are usually read as being normal or unconcerning. When we compare groups of individuals with dystonia, however, we can find differences in brain structure that only show up with larger samples. Our goal is to understand which dystonias will spread through the body (generalize) and which will remain focal to one body area, and to predict the optimal stimulation site for therapies such as Deep Brain Stimulation (DBS).
Dystonia Gene Discovery
The genetic causes of dystonia are not well understood – roughly half of patients with a suspected inherited form of dystonia have no identified genetic cause. Our objective is to find and study genes associated with inherited dystonias, especially those that start in childhood and young adulthood (partnering with Harvard University/Massachusetts General Hospital). An understanding of the genetic basis of dystonia could lead to specific molecular or genetic treatments that could reduce dystonia symptoms or prevent their spread within the body.
Childhood FND (Functional Neurological Disorder)
Functional neurological disorder is a brain-based neurological condition in which the functioning of the nervous system is impaired without an obvious structural cause. We increasingly suspect that FND is a disorder of information processing/routing, rather than a disruption or destruction of nerve cells. Sometimes we make the analogy that FND is a software problem, not a hardware problem. Patients with FND typically have normal brain MRIs, but at the level of groups of patients we can identify structural and functional brain abnormalities. We are actively recruiting subjects into our clinical and MRI study of children and young adults with FND.