Marisa Wexler, MS,  senior science writer—

Mutations that cause Charcot-Marie-Tooth disease type 4B (CMT4B) lead to an increase in the activity of a protein called mTORC1 that is responsible for the problems with myelin that characterize the disease, a study found. The findings suggest that mTORC1 may be a viable therapeutic target in CMT4B, the…

People with Charcot-Marie-Tooth disease (CMT) may have difficulties in understanding speech, even in the absence of hearing loss, caused by problems with the nerve cells that carry signals from the ears to the brain, a study suggests. The study, “Psychoacoustics and neurophysiological auditory processing in patients…

Testing for large deletions or duplications in certain DNA regions, a form of mutation called copy number variations, is important in identifying new mutations that cause Charcot-Marie-Tooth disease (CMT), a study reports. The study, “Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a…

A newly identified mutation in the MCM3AP gene caused Charcot-Marie-Tooth disease (CMT) in a girl with early motor development delay, a study reports. Findings also suggest that mutations in this gene that result in no functional MCM3 protein are associated with more severe symptoms, including a delayed…

A yeast model could be used to assess the biological consequences of mutations in the GDAP1  gene, which can cause Charcot-Marie-Tooth type 4A (CMT4A). The model was described in “Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model,” a study published in the journal Genes.

New genetic technologies like whole-exome sequencing can be used to more quickly diagnose specific subtypes of Charcot-Marie-Tooth disease (CMT), helping patients avoid unnecessary treatments, a recent case series reports. The study, “Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes,” was…

Some patients with Charcot-Marie-Tooth Disease type X (CMTX) exhibit cognitive deficits, such as difficulties with executive function and reading, a recent study shows. The study, “Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease,” was published in the Journal of the International Neuropsychological Society. CMTX, also…

Central nervous system (CNS) dysfunction, manifesting as reversible posterior leukoencephalopathy , was observed in three people with X-linked Charcot-Marie-Tooth (CMTX) and described in a recent case report. The case report, “Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in…

A newly discovered mutation in the gene EGR2 causes a severe form of Charcot-Marie-Tooth disease type 3 (CMT3), according to a case report of a 56-year-old patient. The report, titled “A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy),” was…

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 “…