Author Archives: Patricia Inacio PhD

Poorer Physical Activity in CMT Children Linked with Higher Disability

Children with Charcot-Marie-Tooth disease have reduced physical activity and ambulation, factors linked with greater disability, a study suggests.  The study, “Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study” was published in the journal PLOS One. Charcot-Marie-Tooth (CMT) leads to progressive muscle…

Further Research Needed to Understand Link Between Mutations in tRNA Enzymes and Charcot-Marie-Tooth Disease, Researchers Say

Further studies are needed to understand how mutations in genes coding for aminoacyl-tRNA synthetases (aaRSs) may help fuel Charcot-Marie-Tooth (CMT) disease, researchers say. Their study, “Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases,” was published in the Journal of Biological Chemistry. Proteins are…

New Mutation in GARS Gene Linked to Autosomal Dominant CMT, Case Report Shows

A new mutation in the GARS gene has been associated with autosomal dominant intermediate Charcot-Marie-Tooth disease (DI-CMT), a case report shows. The study, “Novel GARS mutation presenting as autosomal dominant intermediate Charcot‐Marie‐Tooth disease,” was published in the Journal of the Peripheral Nervous System. Up to 37 mutations in the GARS gene have…