Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome Academic Article Article uri icon


MeSH Major

  • Fibroblast Growth Factor 10
  • Homeodomain Proteins
  • Lacrimal Apparatus
  • Morphogenesis
  • Neural Crest


  • We performed morphological and immunohistochemical studies on sural nerve biopsies from two members of a Charcot-Marie-Tooth type 1B family, in which a mutation of the P0 gene on chromosome 1 had been found. Biopsies showed a tomaculous neuropathy with loss of myelinated fibers and frequent small onion bulbs. Immunofluorescence with antibodies to P0 showed this protein to be present in tomaculous and non-tomaculous areas of the myelin sheath. The severity of the myelin abnormalities suggests that in this family Charcot-Marie-Tooth disease may result from a generalized disturbance of Schwann cells as a result of an abnormal P0 protein.

publication date

  • January 1994



  • Academic Article


Digital Object Identifier (DOI)

  • 10.1007/BF00386259

PubMed ID

  • 7511317

Additional Document Info

start page

  • 91

end page

  • 7


  • 87


  • 1