[Sensory and autonomic neuropathies and pain-related channelopathies]

Schmerz. 2015 Aug;29(4):445-57. doi: 10.1007/s00482-015-0024-2.
[Article in German]

Abstract

Loss of pain perception can result from neurodevelopmental defects, degeneration of nociceptive fibers, or altered excitability of sensory neurons. Hereditary neurodegeneration leading to pain loss is classified as sensory and autonomic neuropathy (HSAN). Mutations in approximately 15 genes have been identified in the group of HSAN disorders. Hallmark of the disease is a liability to injury because of impaired acute pain as a warning system to prevent harm. The clinically overlapping "congenital insensitivity to pain (CIP)" is caused by mutations in voltage-gated sodium channels, which control the excitability of nociceptors. However, mutations in the latter genes can also result in disorders with increased pain susceptibility. This review summarizes the clinical presentation of HSAN and pain-related channelopathies and discusses the underlying disease mechanisms.

Publication types

  • Review

MeSH terms

  • Channelopathies / diagnosis*
  • Channelopathies / genetics
  • Channelopathies / pathology
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Genotype
  • Hereditary Sensory and Autonomic Neuropathies / diagnosis*
  • Hereditary Sensory and Autonomic Neuropathies / genetics
  • Hereditary Sensory and Autonomic Neuropathies / physiopathology
  • Humans
  • Nerve Degeneration / genetics
  • Nerve Degeneration / physiopathology
  • Nociceptors / physiology
  • Pain Insensitivity, Congenital / diagnosis*
  • Pain Insensitivity, Congenital / genetics
  • Pain Insensitivity, Congenital / physiopathology
  • Pain Threshold / physiology*
  • Voltage-Gated Sodium Channels / genetics*
  • Voltage-Gated Sodium Channels / physiology

Substances

  • Voltage-Gated Sodium Channels