Marisa Wexler, MS, senior science writer —

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 “…

A novel mutation in the gene PRPS1 was identified in the first case of X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) in China. The finding was described in a case report published in the journal Neuropathology, titled “A novel mutation in PRPS1 gene causes X‐linked Charcot‐Marie‐Tooth disease‐5.”…

The natural course of dominant intermediate Charcot-Marie-Tooth (CMT) disease neuropathy subtype C includes progressively worsening mobility and quality of life over time, a long-term follow-up study shows. Titled “Longitudinal 16‐year study of dominant intermediate CMT type C neuropathy,” the study was published in the journal Muscle…