Alice Melao,  —

Researchers have linked a mutation on the MFN2 gene to mild, late-onset development of Charcot–Marie–Tooth disease type 2A (CMT2A). Two cases of adult-onset CMT2A were reported in a study, “Charcot–Marie–Tooth disease type 2A with an autosomal recessive inheritance: the first report of an adult-onset disease” that…

The use of antisense oligonucleotides (ASOs) to target the PMP22 gene was found to reverse several features of Charcot-Marie-Tooth disease (CMT) in mice, according to the results of a preclinical study. ASOs are single-strand synthetic nucleic acid molecules that bind to a specific messenger RNA (mRNA) sequence, promoting its degradation so…

Intermediate analyses were positive for a Phase 3 clinical trial evaluating Pharnext’s PXT3003 as a possible treatment for people with Charcot-Marie-Tooth disease type 1A (CMT1A). Results of the two planned analyses — conducted by Philippe Lehert, a member of the study’s Independent Data Safety Monitoring Board — confirmed the…

Researchers have found that children affected by Charcot-Marie-Tooth disease type 1A (CMT1A) have lower function, strength, and sensation in the upper limbs and hands. The study, titled “Established and novel measures of upper limb impairment in children with Charcot-Marie-Tooth disease type 1A and Riboflavin Transporter Deficiency…

Evaluating the body composition — its total lean body mass — of patients with Charcot-Marie-Tooth (CMT) disease can help determine disease progression, researchers report, with muscle mass in the legs of particular importance. The study “Body composition and its association with physical performance, quality of life, and clinical…

Researchers report finding a more than four-fold increase in the prevalence of Charcot-Marie-Tooth disease in Denmark between 1988 and 2012, possibly because of better disease diagnosis. They also report significantly higher mortality rates among CMT patients compared to the general public than is thought to exist. Conducted by a team at…

X-linked Charcot-Marie-Tooth disease (CMTX1) affects men and women differently, finds a large-scale study promoted by the Inherited Neuropathies Consortium. The study. “Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1),” appeared in the journal Neurology. CMT is an inherited genetic disease that affects the…

Melatonin can significantly decrease inflammation and oxidative stress markers that may be related to the progression of Charcot-Marie-Tooth disease, a Spanish study reports. The study, which appeared in the journal Molecules, was titled “Melatonin Treatment Reduces Oxidative Damage and Normalizes Plasma Pro-Inflammatory Cytokines in Patients Suffering from Charcot-Marie-Tooth Neuropathy:…

Five case reports of patients with Charcot-Marie-Tooth disease type 4C (CMT4C) and uncommon clinical manifestations provide new insights into the complexity of this disease and demonstrate its clinical variability. The case reports were featured in an article published in the journal Muscle & Nerve. CMT4C is caused by…

Researchers identified a novel genetic mutation affecting the FGD4 gene in a patient with Charcot-Marie-Tooth disease type 4H (CMT4H). With an early onset, CMT4 is a slow progressive neurological disease caused by genetic variations in genes involved in nerve cells function or structure. In the CMT4H subtype, several…