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Farnesol, a component of essential oils of various plants, increased the amount of myelin — a fatty layer that covers and protects nerves — made by lab-grown cells and in a mouse model of Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a study found. Researchers also observed that farnesol…

A Chinese male presenting with decreased sensation, muscle weakness, and myotonia — the inability to relax his muscles — was diagnosed with two unlinked genetic disorders, Charcot-Marie-Tooth disease type 1A (CMT1A) and nondystrophic myotonia, according to a case study. The same genetic conditions were identified in the individual’s father, although…

Two newly reported mutations in the MPZ gene resulted in Charcot-Marie-Tooth (CMT) disease type 1B in Chinese patients, according to a recent study. Taken together with previous cases, the findings further show the diversity of MPZ mutations in Chinese patients, the scientists said. The study, “Two Novel Myelin…

Michele and Kent Stahl and their family have donated $1 million to the CMT Research Foundation (CMTRF). The donation goes to support CMTRF’s ENDGAME campaign, which aims to put an end to Charcot-Marie-Tooth disease type 1A (CMT1A), the most common subtype of CMT. Since ENDGAME launched in…

Blood levels of the protein neurofilament light chain (NFL), a biomarker of several neurological disorders, may not be suitable to measure outcomes in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), a recent study suggests. The study, “A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in…

Several novel mutations in aminoacyl-tRNA synthetase (ARS) genes were linked with Charcot-Marie-Tooth disease (CMT) in a recent study out of Korea. “This study will be useful for performing exact molecular diagnoses and providing reference data for other population studies,” its researchers wrote. The study, “Variants of…

Armatus Bio will now further develop a potential gene therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), aiming to conduct clinical trials. According to a press release from the CMT Research Foundation, which has been funding this therapy’s preclinical development, Armatus is in the process of licensing the gene therapy,…

A Japanese man was found to have a new mutation in the PRPS1 gene, which caused Charcot-Marie-Tooth disease type X- 5 (CMTX5), according to a recent case study. The patient showed the classic symptoms of CMTX5, such as deafness and damage to multiple peripheral nerves — those outside 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…

Nerve damage caused by mutations in the HINT1 gene are as common among Greek patients with Charcot-Marie-Tooth disease (CMT) or a related condition as they are among patients in more central and eastern European countries, a study found. Specifically, four reported cases of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM),…