News

The number of people in the U.K. known to have Charcot-Marie-Tooth disease (CMT) or another neuromuscular disease (NMD) rose by 63% between 2000 and 2019, a study involving almost 13 million people found. Researchers also observed that while lifetime prevalence — the part of a population given a diagnosis at…

Older adults suspected of having Charcot-Marie-Tooth (CMT) disease, particularly those over age 60 with sensory nerve issues like numb hands or feet, may actually have hereditary transthyretin (ATTRv) amyloidosis, a Japanese study suggests. According to its researchers, these patients should undergo genetic testing for mutations in the TTR gene, the cause…

New mutations in the FGD4 gene associated with Charcot-Marie-Tooth disease type 4H (CMT4H) have been identified in a 12-year-old boy in China. The study, “Novel FGD4 Variants and Literature Review of Charcot-Marie-Tooth Disease Type 4H,” was published…

Treatment with CKD504, an inhibitor of the protein HDAC6, enhanced the activity of spinal cord neurons genetically engineered to harbor mutations in the GARS1 gene, a study found. Mutations in GARS1, which disrupt nerve signals, cause Charcot-Marie-Tooth disease type 2D (CMT2D). Together with other benefits, these findings highlight CKD504 as…

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…