José Lopes, PhD, managing science editor —

Mutations in the MFN2 gene are associated with altered connections between mitochondria and another cellular structure called endoplasmic reticulum (ER). These correlate with Charcot–Marie–Tooth disease type 2A (CMT2A) severity, as suggested by a study in patient-derived cells. The study, “MFN2 mutations in Charcot–Marie–Tooth disease alter…

A technique called diffusion tensor imaging (DTI) enables diagnosis of sciatic nerve damage in patients with Charcot-Marie-Tooth disease type 1 (CMT1). The study, “Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study,” appeared in the journal European…

Investigational compound PXT3003 consistently eased disability in patients with mild to moderate Charcot-Marie-Tooth disease type 1A (CMT1A), according to top-line Phase 3 results from Pharnext, which also found that the therapy was safe and well-tolerated. The PLEO-CMT Phase 3 trial (NCT02579759) was a pivotal, 15-month, double-blind study…

Differences in high-resolution nerve ultrasound (HRUS) results could help distinguish patients with Charcot-Marie-Tooth disease type 1A (CMT1A) from those with other disease types characterized by the loss of myelin, a study reports. The study, “Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs,”…

A specific rehabilitation protocol improves hand function and is well-tolerated by patients with Charcot-Marie-Tooth disease, according to researchers. The study, “Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study,” appeared in the Journal of Neurology & Neurophysiology. CMT is characterized by the…

Patients with Charcot-Marie-Tooth type 1A (CMT1A) can have difficulty understanding speech in a noisy background, despite having a normal hearing test, according to a study. The study, “Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A,” which appeared in the journal Scientific Reports, also indicates…

TRPV4 channels, critical players in Charcot-Marie-Tooth disease type 2C (CMT2C), regulate the structure and function of mitochondria in diverse cell types, a new study shows. The study, “TRPV4 interacts with mitochondrial proteins and acts as a mitochondrial structure-function regulator,” appeared in bioRxiv. The balance of calcium (Ca2+)…

A new gene mutation was identified in five family members with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), a Chinese case report describes. The study, “A Novel AIFM1 Mutation in a Chinese Family with X-linked Charcot-Marie-Tooth disease type 4,” appeared in the journal Neuromuscular Disorders. Mutations in…

Specific genetic sequences are critical for normal expression of Pmp22, the critical gene in Charcot-Marie-Tooth disease type 1A (CMT1A), a new study shows. The study, “Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer,” was published in the journal Human Molecular Genetics. CMT1A is caused by…

Researchers in France have found that a new technique to assess muscle electrical activity, called Motor Unit Number Index (MUNIX), correlates with clinical disability in Charcot-Marie-Tooth disease type 1 (CMT1) and can be used to monitor disease progression. The study, “Motor unit number index correlates with disability in Charcot-Marie-Tooth disease,”…