News

For the first time, protein biomarkers of Charcot-Marie-Tooth disease type 2 (CMT2) have been identified, which may help in the development of new treatment strategies, according to researchers. The study, “PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease,” appeared in the Journal of…

Researchers have revealed 3D images of a critical protein complex that provide an essential foundation to better understand the underlying causes of Charcot-Marie-Tooth (CMT) disease and other neurodegenerative diseases. The study titled “Cryo-electron tomography reveals that dynactin recruits a team of dyneins for progressive…

Researchers discovered that the enzyme HDAC6 can serve as a potential therapeutic target in certain gene mutations related to Charcot-Marie Tooth (CMT) disease, according to new research with mice. The study, “HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease,” appeared in the journal Brain.

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

French scientists have linked another mutation of the GDAP1 gene to Charcot-Marie-Tooth disease. But in this case, the mutation was in an area of the gene that does not code for the production of protein. The discovery stemmed from a genetic analysis of a family from Sri Lanka with six…

A new mouse model that mimics the motor behavior deficits seen in people with Charcot-Marie-Tooth subtype 2O disease (CMT2O) will allow researchers to investigate the molecular mechanisms underlying CMT type 2 disease, a new study says. Researchers at Burnett School of Biomedical Sciences at the University of Central…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Chinese researchers have discovered five additional mutations of the gene associated with the type 2 form of Charcot–Marie–Tooth disease. Their findings on the GDAP1 gene appeared in the Journal of Neurology. The title of the article is  “Genotype–phenotype correlation and frequency of distribution in a cohort of…

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.