Alice Melao,  —

One in every 5,943 Koreans has deletions in material that is part of the PMP22 gene linked to Charcot-Marie-Tooth disease type 1A (CMT1A), researchers estimate. A team led by scientists at the Samsung Medical Center in South Korea, in collaboration with LabGenomics, conducted a genetic study of…

Researchers have discovered a cellular “switch” that regulates the production of the correct amount of fat molecules needed for cells to create the myelin layer that protects neurons. The switch was found to rely on the fatty acid synthase enzyme, or FASN, which, when absent or inactive, leads to defective…

A thorough physical examination and genetic testing to rule out Charcot-Marie-Tooth (CMT) disease prior to chemotherapy is an important step to prevent further damage to nerve cells, Kern Medical Center researchers suggest. This conclusion was supported by a case report of a 56-year-old patient with a family history of…

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…

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…

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…

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…

Mutations on the sequence of the SACS gene can lead to sensorimotor impairment similar to that observed in patients with Charcot-Marie-Tooth disease (CMT), researchers contend in a case report study published at Muscular Disorders. More than 20 genes have been associated with the development of different forms of CMT.

Diagnosis of Charcot-Marie-Tooth disease and other neuropathies is essential to prevent severe, life-threatening complications that may arise from the use of chemotherapy drugs, a study published in the journal Acta Oncologica highlights. Some compounds that are commonly used to fight cancers can induce chemotherapy-induced peripheral neuropathy (CIPN). This is…

Korean researchers have conducted a comprehensive analysis of the genetic and clinical features of GJB1 gene mutations in patients with X-linked Charcot-Marie-Tooth type 1 (CMTX1). The results of the study were published in the Journal of the Peripheral Nervous System. More than 400 mutations in the GJB1 gene have been…