Journal article
Demyelinating CMT--what's known, what's new and what's in store?
Neuroscience letters, Vol.596, pp.14-26
06/02/2015
DOI: 10.1016/j.neulet.2015.01.059
PMID: 25625223
Abstract
Inherited neuropathies known collectively as Charcot-Marie-Tooth disease are one of the most common inherited neurological conditions affecting ∼1 in 2500 people. A heterogenous disorder, CMT is divided into subtypes based on the pattern of inheritance and also by neurophysiological studies. Despite the clinical similarities among patients with demyelinating CMT, it is recognized that this group of disorders is both genetically and phenotypically heterogenous. Understanding the pathogenesis of these disorders requires an intimate knowledge of normal myelin development and homeostasis. Improvements in genetic testing techniques over the last 20 years have contributed majorly to the identification of specific genes, proteins, and molecular pathways that are providing the basis for understanding the disease processes and developing rational approaches to therapy.
Details
- Title: Subtitle
- Demyelinating CMT--what's known, what's new and what's in store?
- Creators
- Kathryn M Brennan - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa, IA 52242, USA. Electronic address: kathryn-brennan@uiowa.eduYunhong Bai - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa, IA 52242, USA. Electronic address: yunhong-bai@uiowa.eduMichael E Shy - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa, IA 52242, USA. Electronic address: Michael-shy@uiowa.edu
- Resource Type
- Journal article
- Publication Details
- Neuroscience letters, Vol.596, pp.14-26
- Publisher
- Ireland
- DOI
- 10.1016/j.neulet.2015.01.059
- PMID
- 25625223
- ISSN
- 0304-3940
- eISSN
- 1872-7972
- Grant note
- U54NS065712 / NINDS NIH HHS R01NS075764 / NINDS NIH HHS
- Language
- English
- Date published
- 06/02/2015
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020763402771
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