J Genet Med.  2009 Jun;6(1):25-37.

Genetics of Hereditary Peripheral Neuropathies

• Cho SY
• Choi BO

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.

Keyword

Neuropathy; Inheritance; Hereditary motor and sensory neuropathy; Diagnosis

MeSH Terms

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