title: Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies.
abstract: 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.
authors.affiliation: University of Iowa, Carver College of Medicine, Department of Neurology, 200 Hawkins Drive, Iowa City, IA 52242, USA.
authors.forename: Nivedita U
authors.initials: NU
authors.lastname: Jerath
authors.affiliation: University of Iowa, Carver College of Medicine, Department of Neurology, 200 Hawkins Drive, Iowa City, IA 52242, USA. Electronic address: Michael-shy@uiowa.edu.
authors.forename: Michael E
authors.initials: ME
authors.lastname: Shy
mesh_terms: D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D004195:Disease Models, Animal; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D006801:Humans; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D020933:Neurotrophin 3 / Q000235:genetics / Q000378:metabolism
chemical_list: D020933:Neurotrophin 3
keywords: CMT; Hereditary motor and sensory neuropathy; Molecular genetics; Molecular pathogenesis; Myelin; Neuromuscular disease therapeutics