News

SerRS Mutations Seen as Cause of CMT in 3 Unrelated Families

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…

HNF Relaunches GRIN Registry for CMT, Inherited Neuropathies

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…

TFG Mutation May Cause Rare Type of CMT2 by Damaging Axons

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…

Real-world Study Highlights Impact of CMT1A Symptoms

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…

Scientist Makes Journey Back to Pioneering Gene Therapy for CMT

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,…

Glycosylation May Underlie Effects of Some CMT1B Mutations

Too much glycosylation, a protein modification process, may underlie the effects of some mutations in the MPZ 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…

CMT Awareness Focuses on Education, Fundraising in September

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…