Genetics of Hereditary Peripheral Neuropathies.
- Author:
Sun Young CHO
1
;
Byung Ok CHOI
Author Information
1. Department of Neurology, School of Medicine, Ewha Womans University, Korea. bochoi@ewha.ac.kr
- Publication Type:Review
- Keywords:
Neuropathy;
Inheritance;
Hereditary motor and sensory neuropathy;
Diagnosis
- MeSH:
Axonal Transport;
Hereditary Sensory and Autonomic Neuropathies;
Hereditary Sensory and Motor Neuropathy;
Humans;
Neurodegenerative Diseases;
Neurons;
Peripheral Nervous System;
Peripheral Nervous System Diseases;
Phenotype;
Signal Transduction;
Wills
- From:Journal of Genetic Medicine
2009;6(1):25-37
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into several subtypes. Here, we review the most recent findings in the molecular diagnosis and therapeutic strategy for hereditary peripheral neuropathies. The products of genes associated with hereditary peripheral neuropathy phenotypes are important for neuronal structure maintenance, axonal transport, nerve signal transduction, and functions related to the cellular integrity. Identifying the molecular basis of hereditary peripheral neuropathy and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, as well as the processes involved in the normal development and function of the peripheral nervous system. These advances and the better understanding of the pathogenesis of peripheral neuropathies represent a challenge for the diagnoses and managements of hereditary peripheral neuropathy patients in developing future supportive and curative therapies.
