A rare form of late-onset Charcot-Marie-Tooth disease type 2 (CMT2), caused by TFG gene mutations, is marked by the degeneration of nerve cell projections that include axons, a study suggested. The study also characterized the impact of a specific TFG mutation in a family, which indicated progressive lower-limb muscle…
Electrical stimulation of long nerves involved in lower limb movement significantly reduced damage to myelin and improved motor function in a mouse model of Charcot-Marie-Tooth type 1AÂ (CMT1A) disease, a study showed. These benefits were associated with a reduction in the damaging accumulation of a myelin protein called peripheral myelin…
Weakness in the extremities, fatigue, and difficulty walking are typically the symptoms that affect people with Charcot–Marie–Tooth disease type 1A (CMT1A) the most, and many report substantial anxiety and/or depression, a study found. “These data demonstrate the high unmet medical need in CMT1A caused by the symptoms’ burden are…
A chance meeting at a conference four years ago led two researchers to join forces and resulted in a CMT1A gene therapy now under development. The 2018 Charcot-Marie-Tooth Association scientific conference was where Scott Harper, PhD, from Nationwide Children’s Hospital in Ohio, met Kleopas A. Kleopa, MD,…
Too much glycosylation, a protein modification process, may underlie the effects of some mutations in the MPZÂ gene, the gene responsible for Charcot-Marie-Tooth disease type 1B (CMT1B), a study found. Suggestions this might be the case were supported by findings from a new mouse model of CMT1B, in which a…
From switching out Facebook frames and viewing educational videos, to attending “band” exercise classes and rounding up purchases to the next dollar to benefit research and community programming, supporters are marking Charcot-Marie-Tooth (CMT) Awareness Month, observed every September. According to advocates, calling attention to the group of inherited peripheral…
Repeated damage to nerve cells, also called neurons, may explain in part why symptoms appear to develop slowly in patients with a form of Charcot-Marie-Tooth disease type 2 (CMT2) called CMT2P, a study in a mouse model suggests. Researchers suggested this to explain why neurons in mice carrying a…
Rab7A, the faulty enzyme behind Charcot-Marie-Tooth disease type 2B (CMT2B), regulates the structure and movement of mitochondria, the cells’ powerhouses, according to a new study in patient-derived and mouse cells carrying a CMT2B-causing mutation. Also, the mutated Rab7A enzyme was found to promote mitochondrial fragmentation — the breakup of…
A collaboration between Genome Medical and the Hereditary Neuropathy Foundation has led to a virtual initiative that seeks to reduce genetic testing barriers for Charcot-Marie-Tooth (CMT) disease patients. The new Charcot-Marie-Tooth Genie Project genetic testing program aims to provide the CMT community and its healthcare providers with…
Treatment with a protein called alpha-1 antitrypsin (AAT) protects nerve cells and lowers inflammation in a mouse model of Charcot-Marie-Tooth disease type 1A (CMT1A), a study has found. Lab experiments showed that the treatment, derived from human blood (hAAT), may exert its protective effects on nerve cells by preserving…
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