Author Archives: Steve Bryson PhD

A boy who experienced oculomotor nerve palsy, a rare condition affecting a nerve that controls eye movements, was later diagnosed with Charcot-Marie-Tooth disease type 1 (CMT1), a case study reports. Although the two conditions may have been coincidental, researchers noted the underlying nerve damage due to CMT may have…

New genetic analysis tools identified previously unknown genetic mutations in people diagnosed with various types and subtypes of Charcot-Marie-Tooth (CMT) disease, a study reveals. The new techniques used to discern different genes and rare variants may enable researchers to improve detection rates of this neuropathic disorder. The study, “…

Genetic analysis conducted by researchers in China has advanced the understanding of Charcot-Marie-Tooth (CMT) disease and related disorders, a study suggests. The analysis revealed a relatively higher proportion of those with subtype CMT2 and a lower occurrence of PMP22 gene duplication, a common genetic defect linked to the condition,…

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…