Charcot-Marie-Tooth disease: Correction of the CMT-1A phenotype

Abstract

Charcot-Marie-Tooth (CMT) disease constitutes a group of prevalent hereditary, chronic and debilitating peripheral neuropathies. CMT type 1A (CMT-1A), the most common form of CMT, is autosomal dominant and is characterized by peripheral demyelination. No pharmacotherapies currently exist for CMT-1A, although identification of an underlying duplication in the gene for PMP22 (peripheral myelin protein 22), a glycoprotein expressed in myelin, has ignited the search for candidates to correct the CMT-1A phenotype. To date, these include the progesterone antagonist onapristone, the antioxidant ascorbic acid and the natural neurotrophic factor neurotrophin-3.