Disease mechanisms in hereditary sensory and autonomic neuropathies

Neurobiol Dis. 2006 Feb;21(2):247-55. doi: 10.1016/j.nbd.2005.08.004. Epub 2005 Sep 23.

Abstract

Inherited peripheral neuropathies are common monogenically inherited diseases of the peripheral nervous system. In the most common variant, i.e., the hereditary motor and sensory neuropathies, both motor and sensory nerves are affected. In contrast, sensory abnormalities predominate or are exclusively present in hereditary sensory and autonomic neuropathies (HSAN). HSAN are clinically and genetically heterogeneous and are subdivided according to mode of inheritance, age of onset and clinical evolution. In recent years, 6 disease-causing genes have been identified for autosomal dominant and recessive HSAN. However, vesicular transport and axonal trafficking seem important common pathways leading to degeneration of sensory and autonomic neurons. This review discusses the HSAN-related genes and their biological role in the disease mechanisms leading to HSAN.

Publication types

  • Review

MeSH terms

  • Animals
  • Hereditary Sensory and Autonomic Neuropathies / genetics*
  • Humans
  • Mutation