Mutations in the SerRS gene — which is critical for protein production — were identified as the cause of Charcot-Marie-Tooth disease (CMT) in three families in China, a study reported. Researchers found that two newly-identified SerRS mutations likely acted to disrupt the process by which proteins are produced from…
Blocking the activity of a protein known as SARM1 — called an “executioner” by scientists — may be a useful strategy in Charcot-Marie-Tooth disease (CMT), according to a new study done in a rat model of CMT type 2A (CMT2A). According to researchers, such a strategy may prevent…
Note: This story was updated Nov. 4, 2022, to clarify the organizations associated with this particular initiative. The Hereditary Neuropathy Foundation (HNF) has relaunched its Global Registry for Inherited Neuropathies (GRIN), a database of people with Charcot–Marie–Tooth (CMT) disease or other inherited nerve damage disorders that’s now…
Note: This story was updated Oct. 21, 2022, to correct that the compounds being developed aim to restore autophagy in Schwann cells, not muscle cells. The CMT Research Foundation (CMTRF) has teamed up with …
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…
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