Finding causes of inherited nerve disease

Charcot-Marie-Tooth (CMT) diseases are common inherited nerve disorders. CMT affects nerves of the body, but generally does not affect the nerves in the brain and spinal cord. People with CMT may have muscle weakness and foot deformities. They may also lose their sense of touch and tendon reflexes. There are several types of CMT that caused by mutations in genes encoding myelin proteins. Recently, Vanderbilt scientists found a new myelin protein, called SVIP. In this project, the researchers will see if people with CMT have mutations in this newly discovered myelin protein. They also will see what types of CMT are linked with these mutations. This project could reveal a new genetic cause of CMT diseases.