Patricia Inácio, PhD,  science writer—

Newly identified mutations in the SLC12A6 gene associated with several subtypes of Charcot-Marie-Tooth (CMT) disease have been found, according to a study in Japan. The mutations also affected the central nervous system (brain and spinal cord). The findings call for the need to screen for mutations in the SLC12A6 gene…

The ability to walk in children and adolescents with Charcot-Marie-Tooth (CMT) disease is similarly impaired regardless of their type of foot deformity, according to a small study. The study, “Do different foot types affect the 6-min walk test capacity of younths with Charcot-Marie-Tooth neuropathy,” was published in BMC…

Pharnext’s PXT3003, a potential treatment for Charcot–Marie–Tooth type 1A (CMT1A), continues to show sustained safety and efficacy in a Phase 3 open-label extension study. Data collected in April show that PXT3003 continues to ease disabilities, based on scores in the overall neuropathy limitations scale (ONLS), a…

Ultrasound may help diagnose and direct treatment for carpal tunnel syndrome in people with Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a case report suggests. The report, “Nerve Ultrasound Findings before and after Surgery in a Patient with Charcot-Marie-Tooth Disease Type 1A and Comorbid Carpal Tunnel Syndrome,” was…

A 12-year-old boy with Charcot-Marie-Tooth type 1 (CMT1) was found in a rare case study to carry variants in two different genes, MPZ and MFN2. The variant in MPZ has been previously described and was deemed likely the main cause of CMT in the patient, while the MFN2 variant…

A 62-year-old woman was diagnosed with Charcot-Marie-Tooth (CMT) disease type 4J due to two alterations in the FIG4 gene — one of them a newly identified mutation — according to a case study. “The second mutation, c.2247dupC, p.Ser750GlnX10 is maternally inherited and not previously reported,” the researchers…

Mesenchymal stem cells (MSCs) can boost myelin-producing cells and the function of peripheral nerves — which supply movement and sensation to the arms and legs — in a mouse model of Charcot-Marie-Tooth type 1A, a study shows. The therapeutic benefits of MSCs, which can give rise to many…

The co-occurrence of mutations that affect more than one gene may explain more severe cases of Charcot-Marie-Tooth (CMT) within members of the same family, a small Chinese study says. According to the researchers, this should be considered whenever CMT patients within the same family show differing symptoms. The report…

In a study spanning 15 years, South Korean researchers investigated the clinical, genetic, and imaging features of Charcot-Marie-Tooth (CMT) disease in more than 1,100 families with this group of peripheral nervous system disorders who underwent gene sequencing focused on the NEFL gene. The team identified 10 mutations in…

Older adults suspected of having Charcot-Marie-Tooth (CMT) disease, particularly those over age 60 with sensory nerve issues like numb hands or feet, may actually have hereditary transthyretin (ATTRv) amyloidosis, a Japanese study suggests. According to its researchers, these patients should undergo genetic testing for mutations in the TTR gene, the cause…