Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study

Muscle Nerve. 2004 Dec;30(6):752-60. doi: 10.1002/mus.20172.


We have studied a large Swedish family with a mutation in the nerve growth factor beta (NGFB) gene causing insensitivity to deep pain without anhidrosis (hereditary sensory and autonomic neuropathy, type V; HSAN V). Painfree joint destruction and fractures were common. Peripheral nerve conduction was normal, but temperature thresholds were increased. Sural nerve biopsies showed a moderate loss of A delta fibers and a severe reduction of C fibers. The three most severely affected cases were all born to consanguineous parents, and were homozygotes for the causal genetic mutation. Treatment of these patients is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Female
  • Hereditary Sensory and Autonomic Neuropathies / diagnostic imaging
  • Hereditary Sensory and Autonomic Neuropathies / genetics*
  • Hereditary Sensory and Autonomic Neuropathies / physiopathology*
  • Humans
  • Male
  • Mutation*
  • Nerve Growth Factor / genetics*
  • Pedigree
  • Radiography
  • Sural Nerve / pathology


  • Nerve Growth Factor