A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation

Sorabh Datta, Saurabh Kataria, Raghav Govindarajan
2019 Cureus  
Charcot-Marie-Tooth (CMT) disease is one of the most common primary hereditary neuropathies causing peripheral neuropathies. More than 60 different gene mutations are causing this disease. The PRX gene codes for Periaxin proteins that are expressed by Schwann cells and are necessary for the formation and maintenance of myelination of peripheral nerves. Dejerine-Sottas neuropathy and Charcot-Marie-Tooth type 4F (CMT4F) are the two different clinical phenotypes observed in association with PRX
more » ... e mutation. This article describes a case of an elderly male with a novel mutation involving the PRX gene.
doi:10.7759/cureus.5111 pmid:31523542 pmcid:PMC6741374 fatcat:mw2vw2pplfb5zjy44purxd4d5y