Author Archives: Catarina Silva, MSc

Stroke-like symptoms and mild cognitive impairment are among non-specific symptoms that may suggest X-linked Charcot-Marie-Tooth type 1 (CMTX1), a case series shows. The series, “GJB1 Mutation-A Disease Spectrum: Report of Case Series,” was published in the journal Frontiers in Neurology. CMTX1, also called X-linked CMT,…

Foot drop in Charcot-Marie-Tooth disease may be corrected by transferring the end part of specific leg muscles to the midfoot region, researchers report. The study, titled “Extensor Tendon Transfers for Treatment of Foot Drop in Charcot-Marie-Tooth Disease: A Biomechanical Evaluation,” was published in Foot &…

Charcot-Marie-Tooth disease (CMT) patients from southeast China have higher rates of intermediate CMT, and patients with CMT type 1A seem to have later age of onset, when compared with other patient populations, a study suggests. The study, titled “Genetic spectrum and clinical profiles in a…

Researchers have successfully used adeno-associated virus-mediated gene therapy to treat mice that replicated a novel mutation found in a Charcot-Marie-Tooth Type 2D patient with severe disease. The study describing the scientists’ work, “Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models,” was published in the…

A research project that is now underway and recruiting participants is intended to identify new disease-causing genetic mutations in Charcot-Marie-Tooth (CMT) disease patients. The goal of the observational trial (NCT01193088), known as INC-6602, is to identify new genes that cause CMT, namely CMT type 2, and genes…

Nationwide Children’s Hospital (NCH) has granted the exclusive rights of neutotrophin 3 (NT-3), its gene therapy candidate for the treatment of Charcot-Marie-Tooth (CMT) neuropathies, to Sarepta Therapeutics. Researchers plan to start a Phase 1 trial for the NT-3 therapy in CMT type 1A (CMT1A) patients next year.