Schwann cells — those responsible for the production of the myelin protective layer in peripheral nerve cells — fail to develop normally in the absence of a protein called Ep400, a new mouse study shows. A lack of Ep400 locks the cells in an immature state characterized by defective myelin…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
A new technique allows for detailed understanding of how proteins are transported in the nerve cells that connect the eye to the brain, and this may have implications for not only understanding and treating eye disease, but also for neurological diseases — including Charcot-Marie-Tooth disease (CMT). Those findings were…
A mutation in the periaxin (PRX) gene has been reported for the first time as the cause of Charcot-Marie-Tooth (CMT) type 4F in a Chinese patient. The report, “Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F” was published in the Journal…
Even if not experiencing overt clinical signs, Charcot-Marie-Tooth Disease Type 1A (CMT1A) patients able to walk show respiratory muscle weakness associated with phrenic nerve damage, according to a new study. The findings in that study also revealed that having lower diaphragm strength and function is associated with more advanced…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
Hearing aid trials are recommended for people with Charcot-Marie-Tooth disease (CMT), as hearing problems are variable in this patient population, a study reports. Patients showed particular difficulty in hearing high frequencies, and in understanding speech when there was a noisy background, the researchers reported. “[R]eferral to audiology for a…
Mice carrying a mutation identical to that producing an early-onset, severe form of Charcot-Marie-Tooth (CMT) disease fed with a neutral lipid-enriched diet showed improved myelinization (the growth of the protective layer myelin around nerve fibers) and less peripheral nerve damage, a study found. Such results indicate a potential benefit of…
Defects in PMP22, the protein involved in Charcot-Marie-Tooth disease type 1A (CMT1A), might play a role in the loss of myelin — the fatty substance that protects nerve fibers — associated with multiple sclerosis (MS), according to a case report. The case report study, “A…
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