Patricia Inácio, PhD, science writer —

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…

Armatus Bio will now further develop a potential gene therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), aiming to conduct clinical trials. According to a press release from the CMT Research Foundation, which has been funding this therapy’s preclinical development, Armatus is in the process of licensing the gene therapy,…

A gene therapy delivering instructions to produce the neurotrophin-3 (NT-3) protein to muscle cells improved muscle function and eased defects in nerve and muscle structure of a mouse model of severe Charcot-Marie-Tooth disease type 2D (CMT2D), a study found. These results support an NT-3 gene therapy as a potential treatment…

A new partnership is seeking to identify people with a mutation in the sorbitol dehydrogenase (SORD) gene — the cause of a newly identified type of Charcot-Marie-Tooth disease (CMT) — who may be eligible for clinical trials investigating potential treatments for this recessive subtype. In this collaboration, the Charcot–Marie–Tooth…

The Charcot-Marie-Tooth Association (CMTA) and Addex Therapeutics are teaming up to investigate a potential oral therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), in rodent models of the disease. Established under the association’s Strategy to Accelerate Research (STAR), the collaboration’s goal is to study the benefits of Addex’s proprietary technology —…

The CMT Research Foundation (CMTRF) is closing out its September CMT Action Month program with a virtual convention, a $10 million research campaign, and a partnership with the Muscular Dystrophy Association — all aimed at boosting collaborations and research to find a cure for Charcot-Marie-Tooth disease. According…