News

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.

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, “…