Author Archives: Yedida Y Bogachkov PhD

Rare Case of CMT1A and Sodium Channel Myotonia in Chinese Man

A Chinese male presenting with decreased sensation, muscle weakness, and myotonia — the inability to relax his muscles — was diagnosed with two unlinked genetic disorders, Charcot-Marie-Tooth disease type 1A (CMT1A) and nondystrophic myotonia, according to a case study. The same genetic conditions were identified in the individual’s father, although…

Research Projects Launched With CMTA Seed Money Win NIH Funds

Two research projects focused on developing gene-editing therapies for Charcot-Marie-Tooth disease type 2 (CMT2) — both launched with seed monies from the Charcot-Marie-Tooth Association-Strategy to Accelerate Research (CMTA-STAR) program — have now been awarded additional funding from the National Institutes of Health (NIH). According to a CMTA press…

HINT1 Mutations Linked to CMT Spectrum in Greek Patients

Nerve damage caused by mutations in the HINT1 gene are as common among Greek patients with Charcot-Marie-Tooth disease (CMT) or a related condition as they are among patients in more central and eastern European countries, a study found. Specifically, four reported cases of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM),…

Grant Will Further Research of Dental Pulp Stem Cells in CMT1A

A researcher from Belgium who is developing a new cell-based model for Charcot-Marie-Tooth (CMT) disease has been awarded nearly $99,000 to further her research. The grant from the Charcot-Marie-Tooth Association Strategy to Accelerate Research (CMTA-STAR) has been awarded to Esther Wolfs, PhD, at Hasselt University in Belgium, according…