Author Archives: Catarina Silva, MSc

Stroke-like Symptoms May Indicate CMTX1, Case Series Suggests

Stroke-like symptoms and mild cognitive impairment are among non-specific symptoms that may suggest X-linked Charcot-Marie-Tooth type 1 (CMTX1), a case series shows. The series, “GJB1 Mutation-A Disease Spectrum: Report of Case Series,” was published in the journal Frontiers in Neurology. CMTX1, also called X-linked CMT,…

Gene Therapy Strategy Treats Charcot-Marie-Tooth Type 2D Mice, Study Shows

Researchers have successfully used adeno-associated virus-mediated gene therapy to treat mice that replicated a novel mutation found in a Charcot-Marie-Tooth Type 2D patient with severe disease. The study describing the scientists’ work, “Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models,” was published in the…