Marisa Wexler, MS,  senior science writer—

A novel mutation in the gene PRPS1 was identified in the first case of X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) in China. The finding was described in a case report published in the journal Neuropathology, titled “A novel mutation in PRPS1 gene causes X‐linked Charcot‐Marie‐Tooth disease‐5.”…

The natural course of dominant intermediate Charcot-Marie-Tooth (CMT) disease neuropathy subtype C includes progressively worsening mobility and quality of life over time, a long-term follow-up study shows. Titled “Longitudinal 16‐year study of dominant intermediate CMT type C neuropathy,” the study was published in the journal Muscle…

A new system can detect the worsening of hand function over time in people with Charcot-Marie-Tooth disease (CMT), researchers in Italy have found. Their study, titled “Characteristics and Evolution of the Charcot-Marie-Tooth Hand: an Observational Study,” was published in the European Medical Journal. Symptoms affecting…

September is Charcot-Marie-Tooth (CMT) awareness month, and the Hereditary Neuropathy Foundation (HNF) suggests it is an ideal time to increase awareness — among the general public, educators, legislators, and  physicians — about accurately diagnosing CMT and other inherited neuropathies (nerve diseases). In a press release announcing the month-long observation, the nonprofit…

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…

New findings suggest that Schwann cells are able to make the protective layer myelin for multiple nerve cells. This discovery goes against conventional wisdom about how Schwann cells work, and it could have major implications for our understanding of peripheral neurodegenerative diseases, including Charcot-Marie-Tooth disease (CMT). The study with that…

A new study reports two mutations in the gene C1orf194 that cause Charcot-Marie-Tooth disease (CMT), adding to the body of knowledge about genetic causes of the condition. The study, “Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease,” was published in the journal Brain. More than…

Four new mutations in the gene GJB1 have been identified, joining the growing list of mutations that can cause Charcot-Marie-Tooth disease (CMT). The study, titled “New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease,” was published in the Journal of the Peripheral Nervous System. CMT can be caused…

An 11-year-old girl was diagnosed with Charcot-Marie-Tooth (CMT) disease only after the disease-causing mutation was detected by whole-genome sequencing, after being missed by other detection methods, according to a case report. This case highlights how in-depth genetic sequencing technologies might be the most reliable for diagnosing genetic diseases…

Gene therapy can be of benefit even after neuropathy has begun, research in a mouse model of X-linked Charcot-Marie-Tooth disease (CMTX) found. The study, “Gene therapy after onset of neuropathy provides therapeutic benefit in a model of CMT1X,” was presented by Kleopas Kleopa at the 2019 American…