News

Embelin, a small molecule, rescues hallmark features of Charcot-Marie-Tooth (CMT) disease by stopping a mutant protein from entering the cell’s nucleus, a study in a fly model of the disease showed. Titled “Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy,” the study was published…

A novel mutation in the gene PRPS1 was identified in the first case of X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) in China. The finding was described in a case report published in the journal Neuropathology, titled “A novel mutation in PRPS1 gene causes X‐linked Charcot‐Marie‐Tooth disease‐5.”…

Researchers have successfully used adeno-associated virus-mediated gene therapy to treat mice that replicated a novel mutation found in a Charcot-Marie-Tooth Type 2D patient with severe disease. The study describing the scientists’ work, “Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models,” was published in the…

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…

The natural course of dominant intermediate Charcot-Marie-Tooth (CMT) disease neuropathy subtype C includes progressively worsening mobility and quality of life over time, a long-term follow-up study shows. Titled “Longitudinal 16‐year study of dominant intermediate CMT type C neuropathy,” the study was published in the journal Muscle…

A new system can detect the worsening of hand function over time in people with Charcot-Marie-Tooth disease (CMT), researchers in Italy have found. Their study, titled “Characteristics and Evolution of the Charcot-Marie-Tooth Hand: an Observational Study,” was published in the European Medical Journal. Symptoms affecting…

A new genetic mutation in the MCM3AP gene was identified and associated with three cases of Charcot-Marie-Tooth (CMT) disease in one family, who also showed symptoms of multiple sclerosis (MS), according to a case study. This is the first report of a recessive form of CMT — meaning…

A special advisor to the Charcot-Marie-Tooth Association’s (CMTA) board of directors says he will match donations dollar-for-dollar up to $500,000 to support the organization’s research strategy to fight the disease he has — CMT2. Bruce Chizen was diagnosed in 2016, after decades of experiencing symptoms.

The National Institutes of Health (NIH) granted almost $7.2 million to the Inherited Neuropathy Consortium (INC) to further support its work improving care and clinical research on Charcot-Marie-Tooth disease (CMT) for an additional period of five years. This is the second competitive grant renewal awarded to the…

During Charcot–Marie–Tooth Awareness Month in October, the nonprofit CMT UK is aiming to increase knowledge about what it calls a common rare disease in the United Kingdom (UK). Charcot–Marie–Tooth disease (CMT) is thought to affect about 2.6 million people globally, including 25,000 in the UK, according…