Rossor, AM;
Tomaselli, PJ;
Reilly, MM;
(2016)
Recent advances in the genetic neuropathies.
Current Opinion in Neurology
, 29
(5)
pp. 537-548.
10.1097/WCO.0000000000000373.
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Abstract
PURPOSE OF REVIEW: Charcot-Marie-Tooth disease (CMT) is one of the commonest inherited neuromuscular diseases with a population prevalence of 1 in 2500. This review will cover recent advances in the genetics and pathomechanisms of CMT and how these are leading to the development of rational therapies. RECENT FINDINGS: Pathomechanistic and therapeutic target advances in CMT include the identification of the ErbB receptor signalling pathway as a therapeutic target in CMT1A and pharmacological modification of the unfolded protein response in CMT1B. In CMT2D, due to mutations in glycyl-tRNA synthetase, vascular endothelial growth factor-mediated stimulation of the Nrp1 receptor has been identified as a therapeutic target. Preclinical advances have been accompanied by the publication of large natural history cohorts and the identification of a sensitive biomarker of disease (muscle MRI) that is able to detect disease progression in CMT1A over 1 year. SUMMARY: Advances in next-generation sequencing technology, cell biology and animal models of CMT are paving the way for rational treatments. The combination of robust natural history data and the identification of sensitive biomarkers mean that we are now entering an exciting therapeutic era in the field of the genetic neuropathies.
| Type: | Article |
|---|---|
| Title: | Recent advances in the genetic neuropathies |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1097/WCO.0000000000000373 |
| Publisher version: | http://dx.doi.org/10.1097/WCO.0000000000000373 |
| Language: | English |
| Additional information: | Copyright © 2016 Wolters Kluwer Health, Inc. This is the accepted manuscript version of this article published in Current Opinion in Neurology; the final published version of record can be found at http://dx.doi.org/10.1097/WCO.0000000000000373. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, Charcot-Marie-Tooth Disease, Hereditary Motor And Sensory Neuropathy, Hereditary Motor Neuropathy, Hereditary Sensory Neuropathy, Treatment, Marie-Tooth-Disease, Phenotypic Variability, Mouse Models, Mutations, Combination, Inhibitors, Therapy, Promote, Pxt3003, 1A |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1524652 |
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