José Lopes, PhD, managing science editor —

Researchers found that small molecules which target the key protein altered in patients with Charcot-Marie-Tooth disease type 2A (CMT2A) may be a viable therapeutic approach and also improve other diseases with impaired mitochondrial health. The study, “MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A,”…

Damage in the nerves that control involuntary body functions — known as autonomic nerve damage — is highly prevalent and has a significant impact on Charcot-Marie-Tooth disease (CMT) patients, a new study shows. The research, “Dysautonomia in Charcot-Marie-Tooth Disease and Correlations with Patient-Reported Disability (P2.112),” will be presented…

A specific portion of a protein contributes to the stability of myelin, the coating that protects nerve cells, according to a mouse study that has implications for Charcot-Marie-Tooth (CMT) disease. The findings on periaxin could shed light on the molecular mechanisms involved in CMT type 4F, researchers said. Their study…

Researchers have discovered that a molecular mechanism involving critical proteins for nervous system development may help explain targeted neuromuscular defects in Charcot-Marie-Tooth disease type 2D (CMT2D). The study titled, “Plexin-Semaphorin Signaling Modifies Neuromuscular Defects in a Drosophila Model of Peripheral Neuropathy,” appeared in the journal Frontiers in…

An abnormal protein interaction that led to nerve fiber degeneration in a mouse model of Charcot-Marie-Tooth (CMT) disease type 2D may suggest a new approach to developing treatments for this disease subtype. The study, “Aberrant GlyRS-HDAC6 interaction links to axonal transport deficit in Charcot-Marie-Tooth neuropathy,” appeared in…

Researchers described the case of a family with Charcot-Marie-Tooth (CMT) disease type 4J that has two mutations in the FIG4 gene, leading to the classic features of CMT disease in addition to parkinsonism and speech abormalities. The study “Charcot Marie Tooth disease type 4J with complex central nervous system…

A woman with Charcot–Marie–Tooth disease was unable to regulate her body temperature, experiencing heat surges and an inability to sweat, according to a Canadian case study. Researchers said they were unable to find another report of this problem. It likely stems from the TRPV4 gene mutation the patient had, they said.

For the first time, protein biomarkers of Charcot-Marie-Tooth disease type 2 (CMT2) have been identified, which may help in the development of new treatment strategies, according to researchers. The study, “PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease,” appeared in the Journal of…

Researchers have revealed 3D images of a critical protein complex that provide an essential foundation to better understand the underlying causes of Charcot-Marie-Tooth (CMT) disease and other neurodegenerative diseases. The study titled “Cryo-electron tomography reveals that dynactin recruits a team of dyneins for progressive…

Researchers discovered that the enzyme HDAC6 can serve as a potential therapeutic target in certain gene mutations related to Charcot-Marie Tooth (CMT) disease, according to new research with mice. The study, “HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease,” appeared in the journal Brain.