- William Dauer, MD
- University of Michigan
- Ann Arbor, Michigan
TorsinB; Essential Role in Disease Pathogenesis and Animal Modeling of DYT1 Dystonia
- DYT1 dystonia is a neurodevelopmental disease caused by a deletion in the Tor1, a gene encoding torsinA. The lab has developed a model DYT1 dystonia with overt dystonia-like movements and identified TorsinB as a powerful modifier for the torsinA dysfunction that causes abnormal twisting movements. By dissecting the role of torsinB in contributing to abnormal movements and using this information to develop a novel model, there is the potential to transform research in DYT1 dystonia.
- Veronique VanderHorst, MD, PhD**
- Beth Israel Deaconess Medical Center
- Boston, Massachusetts
Cholinergic Spinal Interneurons Mediating Dystonic Phenotypes
- The neural substrate that mediates the twisting movements so characteristic in various types of dystonia is not understood fully. Recently, technology has become available that allows the anatomical and functional dissection of the different cell types in the higher centers of the brain and motor neurons. To gain insight in the role of cholinergic neurons in various types of dystonia, a novel technology called Design Receptors Exclusively Activated by Designer Drugs (DREADD) will be used in combination with high speed video analysis, kinematics and chronic EMG recording to measure dystonic muscle activity. This work has the potential to help in developing more precise and powerful intervention strategies for dystonia.
** Jake’s Ride for Dystonia Research Grant