Author Archives: Marisa Wexler MS

September Is Charcot-Marie-Tooth Awareness Month

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…

Schwann Cells Discovery May Be Good News for CMT Research

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…

Study Identifies CMT-Causing Mutations in Novel Gene

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…

Study Reports Newly Identified CMT1X-Causing Gene Mutations

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…

Researchers Report CMT2-causing Mutation in the EGR2 Gene

A new study reports a mutation in the gene EGR2 that caused Charcot-Marie-Tooth disease type 2 (CMT2) in an Italian family. The study, “A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene,” was published in Journal of the Peripheral Nervous System. The…