Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

Nivedita U Jerath; Michael E Shy

doi:10.1016/j.bbadis.2014.07.031

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Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

Journal article

Open access

Peer reviewed

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

Nivedita U Jerath and Michael E Shy

Biochimica et biophysica acta. Molecular basis of disease, Vol.1852(4), pp.667-678

04/2015

DOI: 10.1016/j.bbadis.2014.07.031

PMID: 25108281

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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.

Humans

Hereditary Sensory and Autonomic Neuropathies - pathology

Neurotrophin 3 - genetics

Charcot-Marie-Tooth Disease - pathology

Charcot-Marie-Tooth Disease - genetics

Motor Neuron Disease - pathology

Motor Neuron Disease - metabolism

Motor Neuron Disease - therapy

Animals

Motor Neuron Disease - genetics

Neurotrophin 3 - metabolism

Hereditary Sensory and Autonomic Neuropathies - metabolism

Hereditary Sensory and Autonomic Neuropathies - genetics

Charcot-Marie-Tooth Disease - therapy

Hereditary Sensory and Autonomic Neuropathies - therapy

Charcot-Marie-Tooth Disease - metabolism

Motor Neuron Disease - diagnosis

Charcot-Marie-Tooth Disease - diagnosis

Hereditary Sensory and Autonomic Neuropathies - diagnosis

Disease Models, Animal

Details

Title: Subtitle: Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies
Creators: Nivedita U Jerath - University of Iowa, Carver College of Medicine, Department of Neurology, 200 Hawkins Drive, Iowa City, IA 52242, USA
Michael E Shy - University of Iowa, Carver College of Medicine, Department of Neurology, 200 Hawkins Drive, Iowa City, IA 52242, USA. Electronic address: Michael-shy@uiowa.edu
Resource Type: Journal article
Publication Details: Biochimica et biophysica acta. Molecular basis of disease, Vol.1852(4), pp.667-678
DOI: 10.1016/j.bbadis.2014.07.031
PMID: 25108281
NLM abbreviation: Biochim Biophys Acta Mol Basis Dis
ISSN: 0925-4439
eISSN: 1879-260X
Publisher: Netherlands
Grant note: U54NS065712 / NINDS NIH HHS
Language: English
Date published: 04/2015
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020767802771

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