News

Further studies are needed to understand how mutations in genes coding for aminoacyl-tRNA synthetases (aaRSs) may help fuel Charcot-Marie-Tooth (CMT) disease, researchers say. Their study, “Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases,” was published in the Journal of Biological Chemistry. Proteins are…

Treatment of Charcot-Marie-Tooth (CMT) disease represents a substantial economic burden, which increases with age, disease severity, comorbidities, obesity and perceived impairments, according to a German study. The study, “Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany,” was published in the journal Neurology. The team…

A large kindred (group of related people) of Charcot Marie Tooth disease type 1B (CMT1B) patients revealed an increasing incidence of facial spasms and intense nerve pain with age, two uncommon conditions in the disease. The study, “A Charcot Marie Tooth Type 1B Kindred Associated with…

For more than four decades, comedian Jerry Lewis hosted the MDA Labor Day Telethon on behalf of the Muscular Dystrophy Association. That annual event helped the MDA become the nation’s largest non-government source of funding for neuromuscular disease research, with more than $1.4 billion disbursed since its establishment 68…

A gene therapy strategy to treat Charcot-Marie-Tooth disease 4 subtype C (CMT4C), targeted to correct the myelin-producing cells of the peripheral nervous system, showed positive results in a mouse model. The data provide proof-of-principle support for gene therapy to treat CMT4C and potentially other similar demyelinating inherited nerve diseases.

Increasing levels of the mitofusin-1 (MFN1) protein in nerve cells of the spinal cord can reverse the features of Charcot-Marie-Tooth type 2A (CMT2A), a study in mice shows. The study, “Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A…

An imaging technique called 3D multiple gradient echo Dixon-based MRI may be a highly reliable and more sensitive tool for evaluating muscle degeneration in people with Charcot-Marie-Tooth (CMT) disease, a study reports.  This technology enables the mapping and quantification of the proportion of fat within…

Several Charcot-Marie-Tooth Association (CMTA) events are planned in the coming months for Charcot-Marie-Tooth (CMT) patients and caregivers. The organization is hosting a live Facebook webinar March 26 at 9 p.m. EDT. It will feature Kate Lair, a member of the CMTA advisory board and former claims adjudicator. The…

A new study reports a mutation in the gene EGR2 that caused Charcot-Marie-Tooth disease type 2 (CMT2) in an Italian family. The study, “A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene,” was published in Journal of the Peripheral Nervous System. The…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term impact…