Patricia Inácio, PhD,  science writer—

A mutation in the EGR2 gene that by itself does not cause disease was seen to result in Charcot–Marie–Tooth disease in a Spanish family, due to the concurrent presence of another non-disease causing variation in the LITAF gene, a case study reported. The deficiency in both genes — which…

Mutations in the Jagged1 (JAG1) gene may compromise the integrity of peripheral nerves — those found outside the brain and spinal cord — and lead to peripheral neuropathy associated with Charcot-Marie-Tooth disease type 2 (CMT2), a study reports. The study, “Dominant mutations of the…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

Researchers have identified the first Portuguese family with Charcot-Marie-Tooth disease type 2E — caused by rare mutations in the NEFL gene — with family members showing different symptoms. The case report, “The first Portugese family with NEFL-related Charcot-Marie-Tooth type 2 disease,” was published in the journal…

Neuropathic pain — that due to damage in the nervous system — affects almost one-third of patients with Charcot-Marie-Tooth type 1 A (CMT1A) and is linked to greater disability and depression, a study from Serbia reports. The study “Neuropathic pain in patients with Charcot-Marie-Tooth type 1A” was published in…

Mutations in the GDAP1 gene — which are linked to Charcot-Marie-Tooth disease type 2K (CMT2K) — can affect how well mitochondria are able to keep cells supplied with essential energy, a lab study reports. However, the severity of mitochondrial impairment varies according to a mutation’s site within the gene. The study…

Passage Bio has acquired the rights for a gene therapy developed at the University of Pennsylvania (Penn) that aims to restore the function of the MFN2 gene, which is defective in people with Charcot-Marie-Tooth Neuropathy Type 2A (CMT2A). Developed under Penn’s Gene Therapy Program, Passage Bio…

Schwann cells — those responsible for the production of the myelin protective layer in peripheral nerve cells — fail to develop normally in the absence of a protein called Ep400, a new mouse study shows. A lack of Ep400 locks the cells in an immature state characterized by defective myelin…

A mutation in the periaxin (PRX) gene has been reported for the first time as the cause of Charcot-Marie-Tooth (CMT) type 4F in a Chinese patient. The report, “Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F” was published in the Journal…

Hearing aid trials are recommended for people with Charcot-Marie-Tooth disease (CMT), as hearing problems are variable in this patient population, a study reports. Patients showed particular difficulty in hearing high frequencies, and in understanding speech when there was a noisy background, the researchers reported. “[R]eferral to audiology for a…