Recent advances in Charcot-Marie-Tooth disease
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Current opinion in neurology. - Philadelphia, Pa.
, p. 532-540
University of Antwerp
Purpose of review: This article focuses on recent advances in CharcotMarieTooth disease, in particular additions to the genetic spectrum, novel paradigms in molecular techniques and an update on therapeutic strategies. Recent findings: Several new CharcotMarieTooth disease-causing genes have been recently identified, further enlarging the genetic diversity and phenotypic variability, including: SBF1, DHTKD1, TFG, MARS, HARS, HINT1, TRIM1, AIFM1, PDK3 and GNB4. The increasing availability and affordability of next-generation sequencing technologies has ramped up gene discovery and drastically changed genetic screening strategies. All large-scale trials studying the effect of ascorbic acid in CharcotMarieTooth 1A have now been completed and were negative. Efforts have been made to design more robust outcome-measures for clinical trials. Promising results with lonaprisan, curcumin and histone deacetylase 6 inhibitors have been obtained in animal models. Summary: CharcotMarieTooth is the most common form of inherited peripheral neuropathy and represents the most prevalent hereditary neuromuscular disorder. The genetic spectrum spans more than 70 genes. Gene discovery has been revolutionized recently by new high-throughput molecular technologies. In addition, the phenotypic diversity has grown tremendously. This is a major challenge for geneticists and neurologists. No effective therapy is available for CharcotMarieTooth. Several large trials with ascorbic acid were negative but research into novel compounds continues.