Researchers have identified a new mutation in the MFN2 gene that was linked to early onset of Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) with complex and severe symptoms. The case study, “A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype,” was published in the European Journal…
Deficiency in copper, a key factor in several cellular functions, may play a role in Charcot-Marie-Tooth (CMT) disease, say researchers at the University of Iowa’s Carver College of Medicine. Their study, “SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency,” appeared in the journal Brain.
Researchers at China’s Shandong University have discovered a novel gene mutation in a Chinese family with Charcot-Marie-Tooth (CMT) disease type 2. Their study, “A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease,” appeared in the Journal of the Peripheral Nervous System. CMT, one of the…
Japanese researchers have identified five new mutations of the SH3TC2 gene that are involved in the development of Charcot-Marie-Tooth type 4 (CMT4). Their findings, in a study titled “Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2,” appeared in the Journal of Human…
Duke University biomedical engineers created fully functional human muscle from stem cells for the first time, according to a new study. This landmark advancement opens up new avenues for the treatment of conditions related to muscle degeneration, such as Charcot-Marie-Tooth disease. The study, “…
Exercising with an anti-gravity treadmill may help patients with Charcot-Marie-Tooth (CMT) disease improve their balance and ability to walk, new research suggests. The study, “Aerobic anti‐gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study,” appeared in the journal Brain and Behavior. Even though…
Mutations on the sequence of the SACS gene can lead to sensorimotor impairment similar to that observed in patients with Charcot-Marie-Tooth disease (CMT), researchers contend in a case report study published at Muscular Disorders. More than 20 genes have been associated with the development of different forms of CMT.
Falls and near falls are frequent in Charcot-Marie-Tooth disease patients and are the consequence of muscle and joint weakness, according to a patient self-reported questionnaire study. The report “Frequency and circumstances of falls for people with Charcot–Marie–Tooth disease: A cross sectional survey” was published in the journal Physiotherapy Research…
Diagnosis of Charcot-Marie-Tooth disease and other neuropathies is essential to prevent severe, life-threatening complications that may arise from the use of chemotherapy drugs, a study published in the journal Acta Oncologica highlights. Some compounds that are commonly used to fight cancers can induce chemotherapy-induced peripheral neuropathy (CIPN). This is…
The proteins NME3 and CSNK1G3 can help increase production of proteins lacking in genetic diseases with an underlying nonsense mutation – such as Charcot-Marie-Tooth type 2 disease – leading to a reduction in symptoms, a new study shows. The study “Aminoglycoside-mediated promotion of translation readthrough occurs through a non-stochastic…
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