News

Using CRISPR/Cas9 technology to reduce the expression of the gene PMP22 in nerve cells can improve nerve functioning and limit demyelination (damage to the protective covering that surrounds nerve fibers) in a mouse model of Charcot-Marie-Tooth disease 1A (CMT1A), a new proof-of-concept study reports. The study, titled “…

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…