Treatment of Charcot-Marie-Tooth neuropathies

Abstract

Charcot-Marie-Tooth (CMT) is a heterogeneous group of inherited neuropathies that affect the peripheral nerves and slowly cause progressive disability. Currently, there is no effective therapy. Patients' management is based on rehabilitation and occupational therapy, fatigue, and pain treatment with regular follow-up according to the severity of the disease. In the last three decades, much progress has been made to identify mutations involved in the different types of CMT, decipher the pathophysiology of the disease, and identify key genes and pathways that could be targeted to propose new therapeutic strategies. Genetic therapy is one of the fields of interest to silence genes such as PMP22 in CMT1A or to express GJB1 in CMT1X. Among the most promising molecules, inhibitors of the NRG-1 axis and modulators of UPR or the HDACs enzyme family could be used in different types of CMT.

Keywords: Charcot Marie Tooth; Gene therapy; Inherited neuropathy; Management; Therapy.