A woman with Charcot–Marie–Tooth disease was unable to regulate her body temperature, experiencing heat surges and an inability to sweat, according to a Canadian case study. Researchers said they were unable to find another report of this problem. It likely stems from the TRPV4 gene mutation the patient had, they said.
In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…
A mutation affecting the MPZ gene was found to be linked to Charcot–Marie–Tooth (CMT) disease in four members of a single family. University of Vermont researchers published their case report on the family, titled “Novel Myelin Protein Zero…
A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…
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…
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