Journal article
Hereditary motor and sensory neuropathies: a biological perspective
Lancet neurology, Vol.1(2), pp.110-118
2002
DOI: 10.1016/S1474-4422(02)00042-X
PMID: 12849515
Abstract
Mutations in genes expressed in Schwann cells and the axons they ensheath cause the hereditary motor and sensory neuropathies known as Charcot-Marie-Tooth (CMT) disease. At present, mutations in ten different genes have been identified, chromosomal localisation of many other distinct inherited neuropathies has been mapped, and new genetic causes for inherited neuropathies continue to be discovered. How to keep track of these mutations is a challenge for any neurologist, partly because the mutations are commonly presented as an expanding list to be memorised without a biological context of how the encoded proteins behave in the cell. A further challenge for investigators studying diseases of the peripheral nervous system is the increasing complexity of myelination, axonal function, and interactions between Schwann cells and axons. To address these concerns, we present the mutated genes causing these inherited neuropathies in the context of the cell biology of the Schwann cell and axon, and we begin to develop a model of how the various genes may interact in the pathogenesis of CMT disease.
Details
- Title: Subtitle
- Hereditary motor and sensory neuropathies: a biological perspective
- Creators
- Michael E Shy - Department of Neurology and the Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Ml, USAJames Y Garbern - Department of Neurology and the Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Ml, USAJohn Kamholz - Department of Neurology and the Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Ml, USA
- Resource Type
- Journal article
- Publication Details
- Lancet neurology, Vol.1(2), pp.110-118
- Publisher
- Elsevier Ltd
- DOI
- 10.1016/S1474-4422(02)00042-X
- PMID
- 12849515
- ISSN
- 1474-4422
- eISSN
- 1474-4465
- Language
- English
- Date published
- 2002
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020623202771
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