期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
卷 1852, 期 4, 页码 667-678出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbadis.2014.07.031
关键词
CMT; Hereditary motor and sensory neuropathy; Myelin; Molecular genetics; Molecular pathogenesis; Neuromuscular disease therapeutics
资金
- National Institute of Neurological Disorders and Stroke (NINDS)
- Office of Rare Diseases [U54NS065712]
- Muscular Dystrophy Association (MDA)
- Charcot Marie Tooth Association (CMTA)
- MDA Clinical Research Training grant
- University of Iowa Internal Funding Initiatives award
Inherited peripheral neuropathies, like many other degenerative disorders, have been challenging to treat. At this point, there is little specific therapy for the inherited neuropathies other than genetic counseling as well as symptomatic treatment and rehabilitation. In the past, ascorbic acid, progesterone antagonists, and subcutaneous neurotrophin-3 (NT3) injections have demonstrated improvement in animal models of CMT 1A, the most common inherited neuropathy, but have failed to translate any effect in humans. Given the difficulty in treatment, it is important to understand the molecular pathogenesis of hereditary neuropathies in order to strategize potential future therapies. The hereditary neuropathies are in an era of molecular insight and over the past 20 years, more than 78 subtypes of Charcot Marie Tooth disease (CMT) have been identified and extensively studied to understand the biological pathways in greater detail. Next generation molecular sequencing has also improved the diagnosis as well as the understanding of CMT. A greater understanding of the molecular pathways will help pave the way to future therapeutics of CMT. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis. (C) 2014 Elsevier B.V. All rights reserved.
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