Author Archives: Steve Bryson PhD

Mutations in the GARS protein — found in people with Charcot-Marie-Tooth disease type 2D (CMT2D) — enhanced the activity of the enzyme SIRT2, and led to motor deficits and other alterations in fruit flies, a study has found. In turn, blocking…

Scientists in China examined the relationship between genetic mutations in the MORC2 gene and the various disease characteristics in people with the rare Charcot-Marie-Tooth disease subtype 2Z (CMT2Z).  Physicians should consider their study’s findings when working to diagnose unresolved cases showing…

A small study described variable clinical and MRI findings in three Korean people with rare dominant intermediate Charcot Marie Tooth (CMT) disease type F.  These results may be useful for the diagnosis of CMT patients with unknown genetic mutations, the scientists…

A form of gene therapy that reduces levels of the PMP22 protein prevented the development of Charcot-Marie-Tooth disease 1A (CMT1A) features in a rat model, a study has found.  The study, “AAV2/9-mediated silencing of PMP22 prevents…

Children and teenagers with Charcot-Marie-Tooth (CMT) disease have until May 15 to sign up for this year’s edition of Camp Footprint, which will be held virtually from Aug. 2 to 6. …

Sciatic motor nerves in mice lacking the GJB1 gene — defective in people with X-linked Charcot-Marie-Tooth (CMTX) disease — regenerated more after external injury than was seen in healthy mice, a study has revealed.  These findings suggested…

A large multicenter study on the natural history of Charcot-Marie-Tooth disease type 2A (CMT2A) correlates different genetic profiles and disease-causing mutations to their effect on disease severity and progression.  The findings will help inform prognosis and provide data to support clinical…

Treating a woman with Charcot-Marie-Tooth disease type 2 (CMT2) with an anti-inflammatory compound isolated from green tea led to increased muscle mass, improved motor skills, and reduced body fat and inflammatory markers, a case study reports. The study, “…

A common pathway malfunction was found to underlie Charcot–Marie–Tooth (CMT) disease subtypes 1C and 4J, despite different disease-causing mutations, a cell-based study has discovered.  Researchers showed that when cells carrying different CMT-linked mutations were treated with a certain single small molecule,…

Blocking a protein called CMTM6 in myelin-producing cells increases the thickness of nerve fibers and the speed at which electrical signals travel along their length, a mouse study has found. Based on these findings, researchers argued that blocking the activity of this protein may be a valuable therapeutic approach…