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Acta Neuropathologica

, Volume 87, Issue 1, pp 91–97 | Cite as

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

  • Florian P. Thomas
  • Roger V. Lebo
  • Gorazd Rosoklija
  • Xin-Sheng Ding
  • Robert E. Lovelace
  • Norman Latov
  • Arthur P. Hays
Case Report

Abstract

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 nyelin 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.

Key words

Charcot-Marie-Tooth disease HMSNIB CMT1B P0 tomacula 

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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Florian P. Thomas
    • 1
    • 2
    • 3
  • Roger V. Lebo
    • 4
    • 5
    • 6
  • Gorazd Rosoklija
    • 1
  • Xin-Sheng Ding
    • 1
  • Robert E. Lovelace
    • 2
  • Norman Latov
    • 2
  • Arthur P. Hays
    • 1
  1. 1.Department of Pathology (Division of Neuropathology), College of Physicians & SurgeonsColumbia UniversityNew YorkUSA
  2. 2.Neurological Institute, College of Physicians & SurgeonsColumbia UniversityNew YorkUSA
  3. 3.Clinical Research Institute of MontrealMontrealCanada
  4. 4.Department of ObstetricsUniversity of CaliforniaSan FranciscoUSA
  5. 5.Department of GynecologyUniversity of CaliforniaSan FranciscoUSA
  6. 6.Department of PediatricsUniversity of CaliforniaSan FranciscoUSA

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