Researchers have identified some 50 people from three families who live in St. Louis, Wisconsin, Belgium and Bulgaria and have this form of Charcot-Marie Tooth (CMT) disease, says Florian Thomas, M.D., Ph.D., professor of neurology, molecular virology and molecular microbiology and immunology at Saint Louis University School of Medicine, and associate chief of staff and director of the St. Louis VA Medical Center Spinal Cord Injury/Dysfunction Service.
"The discovery of every new gene advances our knowledge of the function of the organ system for which it is relevant and in which it is expressed," Thomas says. "A gene identified in a specific and rare hereditary disease allows for a better understanding of all similar hereditary diseases.
"Not only that, it also allows for a better understanding of how nerves function in general and in any acquired neuropathy. So finding a gene in a family with CMT can help us understand how neuropathy develops in its most common form, for instance, in this country, that seen in people with diabetes."
CMT is the most common inherited neurological disorder, affecting one in 2,500 people and involving the peripheral nerves, which are the structures that connect the brain and spinal cord to our muscles, skin and internal organs.
Half of those who have CMT have one type of the illness due to a mutation in one particular gene, and the other half have one of many other types of the disease. The form of CMT shared by the three families researchers have studied is known as DI-CMT C. While CMT is rare, neuropathies in general are very common, affecting some 10 million people in this country.