Journal article
Diagnosis and new treatments in genetic neuropathies
Journal of neurology, neurosurgery and psychiatry, Vol.80(12), pp.1304-1314
12/2009
DOI: 10.1136/jnnp.2008.158295
PMID: 19917815
Abstract
The genetic neuropathies are a clinically and genetically heterogeneous group of diseases of which the most common types are Charcot-Marie-Tooth disease (CMT), the hereditary sensory and autonomic neuropathies and the distal hereditary motor neuropathies. More than 30 causative genes have been described, making an accurate genetic diagnosis increasingly possible. Although no specific therapies are yet available, research into their pathogenesis has revolutionised our understanding of the peripheral nervous system and allowed the development of rational approaches to therapy. The first therapeutic trials in CMT are currently underway. This review will suggest an approach to the diagnosis of these disorders and provide an update on new therapies.
Details
- Title: Subtitle
- Diagnosis and new treatments in genetic neuropathies
- Creators
- M M Reilly - National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK. m.reilly@ion.ucl.ac.ukM E Shy
- Resource Type
- Journal article
- Publication Details
- Journal of neurology, neurosurgery and psychiatry, Vol.80(12), pp.1304-1314
- DOI
- 10.1136/jnnp.2008.158295
- PMID
- 19917815
- NLM abbreviation
- J Neurol Neurosurg Psychiatry
- ISSN
- 0022-3050
- eISSN
- 1468-330X
- Publisher
- England
- Grant note
- G0601943 / Medical Research Council Medical Research Council
- Language
- English
- Date published
- 12/2009
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020649102771
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