Patricia Inácio, PhD, science writer —

A proposed therapy for neurodegenerative diseases involving the removal of the neurofilament light chain protein (NEFL) may have harmful consequences in humans, potentially leading to Charcot-Marie-Tooth disease (CMT), researchers have found. The research team discovered this while studying the effects of a type of mutation in the NEFL gene,…

Researchers found that a neuropathy-based scale may help predict the need for mobility assistance in children with Charcot-Marie-Tooth disease. The results will be presented April 23 at the 2018 American Academy of Neurology (ANN) Annual Meeting, April 21-27 in Los Angeles in the session dedicated to Child Neurology…

A new mouse model that mimics the motor behavior deficits seen in people with Charcot-Marie-Tooth subtype 2O disease (CMT2O) will allow researchers to investigate the molecular mechanisms underlying CMT type 2 disease, a new study says. Researchers at Burnett School of Biomedical Sciences at the University of Central…

Researchers have identified a new mutation in the MFN2 gene that was linked to early onset of Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) with complex and severe symptoms. The case study, “A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype,” was published in the European Journal…

Deficiency in copper, a key factor in several cellular functions, may play a role in Charcot-Marie-Tooth (CMT) disease, say researchers at the University of Iowa’s Carver College of Medicine. Their study, “SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency,” appeared in the journal Brain.

Exercising with an anti-gravity treadmill may help patients with Charcot-Marie-Tooth (CMT) disease improve their balance and ability to walk, new research suggests. The study, “Aerobic anti‐gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study,” appeared in the journal Brain and Behavior. Even though…

Falls and near falls are frequent in Charcot-Marie-Tooth disease patients and are the consequence of muscle and joint weakness, according to a patient self-reported questionnaire study. The report “Frequency and circumstances of falls for people with Charcot–Marie–Tooth disease: A cross sectional survey” was published in the journal Physiotherapy Research…

Researchers identified a novel mutation responsible for a rare form of Charcot-Marie-Tooth disease in a 13-year-old Chinese patient. The case report, “A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease,” appeared in the journal Neuromuscular Disorders. Mutations (errors) in the gene coding for the…

Placing the patient and family members at the center of research and drug development in the rare disease field is a necessity, experts say, but one that often falls short in practice. The opinion piece,“Measuring what matters to rare disease patients – reflections on the work by the IRDiRC…

Researchers report what may be the first case of Charcot-Marie-Tooth (CMT) type 1 neuropathy being diagnosed in a 55-year-old patient after she was given standard care for advanced breast cancer. Doctors later found the woman had a family history of CMT, and the scientists speculate that the neuropathy was triggered…