New genetic cause of Charcot-Marie-Tooth disease identified

New research, published this week in Brain, has widened understanding of the inheritance of Charcot-Marie-Tooth disease (CMT). The team, based at the University of Pennsylvania (PA, USA), successfully indentified de-novo mutations associated with the most common form of CMT, termed CMT type 1 (CMT1), which affects nearly one in 2,500 Americans. To date, CMT1, caused by a malfunction in the Schwann cells of the myelin sheath, has only been linked to a limited set of five causative genes. Neurologists at the University of Pennsylvania initiated the study by analyzing the genetics of a father and son who were both being...