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- W3208426791 endingPage "1447" @default.
- W3208426791 startingPage "1447" @default.
- W3208426791 abstract "There is still no effective drug treatment available for Charcot-Marie-Tooth neuropathies (CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities, and symptomatic treatment of pain; fatigue and cramps are frequent complaints that are difficult to treat. The challenge is to find disease-modifying therapies. Several approaches, including gene silencing, to counteract the PMP22 gene overexpression in the most frequent CMT1A type are under investigation. PXT3003 is the compound in the most advanced phase for CMT1A, as a second-phase III trial is ongoing. Gene therapy to substitute defective genes or insert novel ones and compounds acting on pathways important for different CMT types are being developed and tested in animal models. Modulation of the Neuregulin pathway determining myelin thickness is promising for both hypo-demyelinating and hypermyelinating neuropathies; intervention on Unfolded Protein Response seems effective for rescuing misfolded myelin proteins such as P0 in CMT1B. HDAC6 inhibitors improved axonal transport and ameliorated phenotypes in different CMT models. Other potential therapeutic strategies include targeting macrophages, lipid metabolism, and Nav1.8 sodium channel in demyelinating CMT and the P2X7 receptor, which regulates calcium influx into Schwann cells, in CMT1A. Further approaches are aimed at correcting metabolic abnormalities, including the accumulation of sorbitol caused by biallelic mutations in the sorbitol dehydrogenase (SORD) gene and of neurotoxic glycosphingolipids in HSN1." @default.
- W3208426791 created "2021-11-08" @default.
- W3208426791 creator A5013378366 @default.
- W3208426791 creator A5038257840 @default.
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- W3208426791 date "2021-10-29" @default.
- W3208426791 modified "2023-10-11" @default.
- W3208426791 title "Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives" @default.
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- W3208426791 doi "https://doi.org/10.3390/brainsci11111447" @default.
- W3208426791 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8615778" @default.
- W3208426791 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34827446" @default.
- W3208426791 hasPublicationYear "2021" @default.
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