[Acute relapse in Charcot-Marie-Tooth 1B neuropathy: can protein P0 behave like an autoantigen?]

Rev Neurol (Paris). 2004 Sep;160(8-9):839-42. doi: 10.1016/s0035-3787(04)71042-5.
[Article in French]

Abstract

Introduction: The natural history of Charcot-Marie-Tooth neuropathy is marked by accentuated motor and sensitive deficits suggestive of acute polyradiculoneuritis or, more generally, chronic inflammatory demyelinizing polyneuropathy.

Observation: A 41-year-old woman, with Charcot-Marie-Tooth (CMT) 1B neuropathy associated with a P0 gene mutation, developed several episodes of ataxia which resolved after intravenous administration of IgG or corticosteroids.

Conclusion: The sudden increase of a motor or sensitive deficit in this patient with CMT type I led to two hypotheses: chance association between an inherited and an inflammatory neuropathy, or a dysimmune inflammatory reaction, the mutated protein acting like an autoantigen. These two hypotheses are discussed.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Acute Disease
  • Adult
  • Autoantigens / immunology*
  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / immunology*
  • Female
  • Humans
  • Myelin P0 Protein / immunology*
  • Severity of Illness Index

Substances

  • Autoantigens
  • Myelin P0 Protein