Many of the mutated proteins that cause the different forms of Charcot-Marie-Tooth disease type 2 (CMT2) tend to go to a point in nerve cells, or neurons, called stress granules. There, upon stress, they make unwanted interactions with a protein called G3BP, a study found. Breaking these interactions was…

A new report describes the case of a 63-year-old man diagnosed with an atypical, severe form of Charcot-Marie-Tooth disease type 2 (CMT2), with overlapping symptoms of the rarer CMT type 4. Genetic testing showed the man had the subtype CMT2K, caused by mutations in the GDAP1 gene, but with…

People with Charcot-Marie-Tooth disease (CMT) type 2 are likely to experience inefficient sleep with more time spent awake after going to bed, according to a new study. “We can conclude that sleep in Charcot-Marie-Tooth disease is impaired, specifically for those with type 2 of the disease, which is evidenced…

A new genetic mutation was identified in an Italian woman with severe muscle wasting in the arms and legs due to Charcot-Marie-Tooth disease type 2 (CMT2). The finding is part of a study that described the clinical characteristics of 13 patients carrying disease-causing mutations in MFN2, a gene that…

A new MME gene mutation was discovered in three members of a large Iranian family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT2), according to a recent case report. The report, “A nonsense mutation in MME gene associates with autosomal recessive late-onset…

The proteins NCAM1 and GDF15 are present at higher-than-normal levels in the blood of people with Charcot-Marie-Tooth disease (CMT), and in mouse models of the disease, a new study indicates. Scientists think these proteins may be useful biomarkers across types of CMT. The study, “NCAM1 and…

I have the words “Charcot-Marie-Tooth” set as one of my Google alerts. As a result, I’ve come across many articles about CMT and CMTers. I love this. For me, it’s a great way to stay informed about the CMT community and hear about some of the…

Two research projects focused on developing gene-editing therapies for Charcot-Marie-Tooth disease type 2 (CMT2) — both launched with seed monies from the Charcot-Marie-Tooth Association-Strategy to Accelerate Research (CMTA-STAR) program — have now been awarded additional funding from the National Institutes of Health (NIH). According to a CMTA press…

Abnormalities in cellular transport and in mitochondria (the cell’s powerhouses) are a common feature of motor neurons derived from people with four different subtypes of Charcot-Marie-Tooth disease type 2 (CMT2), a study shows. Notably, treatment with a suppressor of DLK — a molecule involved in mitochondrial damage and transport…

Treating a woman with Charcot-Marie-Tooth disease type 2 (CMT2) with an anti-inflammatory compound isolated from green tea led to increased muscle mass, improved motor skills, and reduced body fat and inflammatory markers, a case study reports. The study, “…