Journal article
Update on Charcot-Marie-Tooth disease
Current neurology and neuroscience reports, Vol.11(1), pp.78-88
02/2011
DOI: 10.1007/s11910-010-0158-7
PMCID: PMC3685483
PMID: 21080241
Abstract
Charcot-Marie-Tooth disease (CMT) disease encompasses a genetically heterogeneous group of inherited neuropathies, also known as hereditary motor and sensory neuropathies. CMT results from mutations in more than 40 genes expressed in Schwann cells and neurons causing overlapping phenotypes. The classic CMT phenotype reflects length-dependent axonal degeneration characterized by distal sensory loss and weakness, deep tendon reflex abnormalities, and skeletal deformities. Recent articles have provided insight into the molecular pathogenesis of CMT, which, for the first time, suggest potential therapeutic targets. Although there are currently no effective medications for CMT, multiple clinical trials are ongoing or being planned. This review will focus on the underlying pathomechanisms and diagnostic approaches of CMT and discuss the emerging therapeutic strategies.
Details
- Title: Subtitle
- Update on Charcot-Marie-Tooth disease
- Creators
- Agnes Patzkó - Wayne State University, 421 East Canfield, Elliman Building 3209, Detroit, MI 48201, USA. apatzko@yahoo.comMichael E Shy
- Resource Type
- Journal article
- Publication Details
- Current neurology and neuroscience reports, Vol.11(1), pp.78-88
- DOI
- 10.1007/s11910-010-0158-7
- PMID
- 21080241
- PMCID
- PMC3685483
- NLM abbreviation
- Curr Neurol Neurosci Rep
- ISSN
- 1528-4042
- eISSN
- 1534-6293
- Publisher
- United States
- Grant note
- R01 NS041319 / NINDS NIH HHS U54 NS065712 / NINDS NIH HHS U54 NS065712-03 / NINDS NIH HHS
- Language
- English
- Date published
- 02/2011
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020765302771
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