Alice Melao,  —

A reanalysis of the genetic profile of a large Costa Rican family revealed that a PNKP gene mutation was to blame for Charcot-Marie-Tooth disease type 2 (CMT2) and not a mutation in the MED25 gene, as had been proposed in an initial evaluation 17 years ago. These findings…

Flex Pharma is terminating a Phase 2 clinical trial that was assessing FLX-787 as a potential treatment for muscle cramps in Charcot-Marie-Tooth disease (CMT) patients due to concerns about the oral tolerability of the investigational therapy. The randomized, double-blind COMMIT trial (NCT03254199) was being conducted at 20…

Muscle weakness due to excessive or repetitive muscle use, a symptom known as “overwork weakness,” is evident in the hands of patients with Charcot‐Marie‐Tooth (CMT) disease, a study reported, suggesting that greater awareness and better therapy programs could help to prevent the loss of upper-limb strength in these people. The…

A specific mutation in a small RNA molecule called miR-149 was found to be linked to both age of onset and severity in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), according to researchers. Their study, “Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease…

Inhibition of a tumor suppressor enzyme called MST1 could reverse the effects of the genetic mutations that cause Charcot-Marie-Tooth disease type 4J (CMT4J), researchers show in a fruit fly study. The study, “Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown,”…

Researchers at University of Michigan developed a new method that can help identify potential targets relevant for normal peripheral nerve activity and Charcot-Marie-Tooth (CMT) disease therapy development. Based on genetic analysis of non-coding regions in genes coupled with experimental cell line testing, the new method revealed the Tubb2b gene as an…

The Inherited Neuropathies Consortium will conduct a clinical trial of a tool that researchers developed to assess the severity of children’s Charcot-Marie-Tooth Disease. Scientists say the assessment tool used in adults — the Charcot-Marie-Tooth neuropathy score, or CMTNS — is a reliable way of determining the severity of their disease. It…

Researchers found that HERC1 protein may be important for the production of myelin, the protective layer in peripheral nerves. This discovery, from a mouse study, increases scientific knowledge about the processes involved in several demyelinating disorders, including Charcot-Marie-Tooth (CMT) disease. The study, “HERC1 Ubiquitin Ligase Is Required…

Researchers have found that footwear that provides inadequate support to users negatively affects the gait and balance of children and adolescents with Charcot-Marie-Tooth (CMT) disease. CMT is characterized by progressive damage to peripheral nerve cells, particularly affecting the feet and ankles. Children with this disease often experience gait difficulties due…

Researchers have linked a newly identified mutation affecting the HSPB1 gene to a rare subtype of Charcot-Marie-Tooth disease (CMT) in a recent case report from India. The case report, “Charcot Marie Tooth disease 2F and a novel mutation from India,” was described by a team at the…