Journal article
A molecular basis for hereditary motor and sensory neuropathy disorders
Current neurology and neuroscience reports, Vol.1(1), pp.77-88
02/2001
DOI: 10.1007/s11910-001-0079-6
PMID: 11898503
Abstract
Charcot-Marie-Tooth disease (CMT), or inherited peripheral neuropathies, is one of the most frequent genetically inherited neurologic disorders, with a prevalence of approximately one in 2500 people. CMT is usually inherited in an autosomal dominant fashion, although X-linked and recessive forms of CMT also exist. Over the past several years, considerable progress has been made toward understanding the genetic causes of many of the most frequent forms of CMT, particularly those caused by mutations in Schwann cell genes inducing the demyelinating forms of CMT, also known as CMT1. Because the genetic cause of these disorders is known, it is now possible to study how mutations in genes encoding myelin proteins cause neuropathy. Identifying these mechanisms will be important both for understanding demyelination and for developing future treatments for CMT.
Details
- Title: Subtitle
- A molecular basis for hereditary motor and sensory neuropathy disorders
- Creators
- Michael Shy - Department of Neurology and Center for Molecular Medicine and Genetics Wayne State University School of Medicine 421 East Canfield, Elliman Building 3206 48201 Detroit MI USAJanne Balsamo - Department of Biological Sciences University of Iowa 138 Biology Bldg. 52242-1324 Iowa City IA USAJack Lilien - Department of Biological Sciences University of Iowa 138 Biology Bldg. 52242-1324 Iowa City IA USAJohn Kamholz - Department of Neurology and Center for Molecular Medicine and Genetics Wayne State University School of Medicine 421 East Canfield, Elliman Building 3206 48201 Detroit MI USA
- Resource Type
- Journal article
- Publication Details
- Current neurology and neuroscience reports, Vol.1(1), pp.77-88
- Publisher
- Current Medicine Group; Philadelphia
- DOI
- 10.1007/s11910-001-0079-6
- PMID
- 11898503
- ISSN
- 1528-4042
- eISSN
- 1534-6293
- Language
- English
- Date published
- 02/2001
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biology
- Record Identifier
- 9984020885002771
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