Marta Figueiredo, PhD, science writer —

Electrical stimulation of long nerves involved in lower limb movement significantly reduced damage to myelin and improved motor function in a mouse model of Charcot-Marie-Tooth type 1A (CMT1A) disease, a study showed. These benefits were associated with a reduction in the damaging accumulation of a myelin protein called peripheral myelin…

Rab7A, the faulty enzyme behind Charcot-Marie-Tooth disease type 2B (CMT2B), regulates the structure and movement of mitochondria, the cells’ powerhouses, according to a new study in patient-derived and mouse cells carrying a CMT2B-causing mutation. Also, the mutated Rab7A enzyme was found to promote mitochondrial fragmentation — the breakup of…

Mutations in the MARS gene can cause axonal and intermediate childhood-onset forms of Charcot-Marie-Tooth disease (CMT), according to a study of two unrelated Chinese families. While MARS mutations were reported initially to cause an axonal form of CMT, these findings add to previous studies suggesting a link between such mutations…

Blood levels of irisin, an exercise-induced muscle hormone, are significantly lower in people with Charcot-Marie-Tooth disease (CMT) and associate with muscle strength and quality, a small study shows. The findings suggest that this protein, previously shown to have protective effects against muscle wasting, may be a useful biomarker to…

A gene therapy designed to reduce the levels of PMP22 — the protein overly produced in Charcot-Marie-Tooth disease type 1A (CMT1A) — significantly lessened functional deficits in a mouse model of the disease, a study shows. The approach, based on an artificial microRNA (miRNA) molecule, was found to significantly…

Newly identified mutations in the IGHMBP2 gene have been associated with Charcot-Marie-Tooth disease type 2S (CMT2S), according to a study in China. Data also suggested that missense IGHMBP2 mutations localized in the functional domains of the resulting IGHMBP2 enzyme may be linked to more severe forms of the disease. Missense mutations…

In rare cases, de novo or non-inherited mutations in one copy of the POLR3B gene can cause an early-onset demyelinating form of Charcot-Marie-Tooth disease (CMT), according to a study from Japan involving more than 800 CMT patients. While mutations in both POLR3B gene copies have been shown to cause a rare neurodevelopmental…

Compared to regular footwear, customized orthopedic shoes significantly improve walking, including speed, in adults with Charcot-Marie-Tooth (CMT) disease, according to a small study in the Netherlands. However, no significant differences in postural stability while standing or walking were noted when patients wore orthopedic versus standard shoes. While orthopedic…

People with Charcot-Marie-Tooth disease type 1A (CMT1A) have reduced quality of life, particularly in physical domains, a study from Serbia shows. Disease severity, depression, and fatigue are the main predictors of worse quality of life in this patient population. Given that there is still no treatment for this disease, managing…

Suppressing the activation of nerve macrophages — a type of immune cell involved in Charcot-Marie-Tooth (CMT) type 1 — from birth lessened nerve damage and partially preserved motor function in a mouse model of CMT type 1A (CMT1A), a study shows. These findings contrast with those previously reported for…