Journal article
Update on Charcot-Marie-Tooth disease
Current opinion in neurology, Vol.28(5), pp.462-467
10/2015
DOI: 10.1097/WCO.0000000000000237
PMID: 26263471
Abstract
Charcot-Marie-Tooth disease (CMT) is the common terminology used to describe the hereditary neuropathies. This update reviews advances in the past year in our understanding of these diseases, including some important earlier references.
In the past year, advances in next-generation sequencing continued to increase the number of genes associated with CMT. The connection between genotype and phenotype has become more complicated. New insights into the pathogenesis of the diseases are reviewed. Treatment and clinical trial updates coming from these new insights, as well as use of high-throughput screening to match potential treatments with targets, are moving the field forward. There is a discussion of potential next steps, including the use of patient-derived induced pluripotent stem cells, to enhance our understanding of individual genotypes and phenotypes.
The use of high-throughput screens, and techniques such as RNAi and induced pluripotent stem cell continue to push forward other therapies for specific genetic forms of CMT and are potentially more generalizable to peripheral neuropathies. These developments, along with the development of improved outcome measures and longitudinal natural history data, advance CMT, making the future for finding treatments and/or cures closer than it has ever been.
Details
- Title: Subtitle
- Update on Charcot-Marie-Tooth disease
- Creators
- Laurie Gutmann - Department of Neurology, University of Iowa, Iowa City, Iowa, USAMichael Shy
- Resource Type
- Journal article
- Publication Details
- Current opinion in neurology, Vol.28(5), pp.462-467
- DOI
- 10.1097/WCO.0000000000000237
- PMID
- 26263471
- NLM abbreviation
- Curr Opin Neurol
- ISSN
- 1350-7540
- eISSN
- 1473-6551
- Publisher
- England
- Grant note
- R25 NS088248 / NINDS NIH HHS U54NS065712 / NINDS NIH HHS 1 U01NS077179-01 / NINDS NIH HHS R01NS075764 / NINDS NIH HHS
- Language
- English
- Date published
- 10/2015
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984013276202771
Metrics
72 Record Views