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Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

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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.

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Authors and Affiliations

  1. Department of Pathology (Division of Neuropathology), College of Physicians & Surgeons, Columbia University, New York, NY, USA

    Florian P. Thomas, Gorazd Rosoklija, Xin-Sheng Ding & Arthur P. Hays

  2. Neurological Institute, College of Physicians & Surgeons, Columbia University, New York, NY, USA

    Florian P. Thomas, Robert E. Lovelace & Norman Latov

  3. Clinical Research Institute of Montreal, 110 Pine Avenue West, H2W 1R7, Montreal, Quebec, Canada

    Florian P. Thomas

  4. Department of Obstetrics, University of California, San Francisco, CA, USA

    Roger V. Lebo

  5. Department of Gynecology, University of California, San Francisco, CA, USA

    Roger V. Lebo

  6. Department of Pediatrics, University of California, San Francisco, CA, USA

    Roger V. Lebo

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  1. Florian P. Thomas
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  2. Roger V. Lebo
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  5. Robert E. Lovelace
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Additional information

Supported by the Aaron Diamond Foundation and center grants from the MDA and from NINCDS to R.V. Lebo (NS25541) and N. Latov (NS11761). F.P. Thomas is a fellow of the Medical Research Council of Canada

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Thomas, F.P., Lebo, R.V., Rosoklija, G. et al. Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol 87, 91–97 (1994). https://doi.org/10.1007/BF00386259

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  • DOI: https://doi.org/10.1007/BF00386259

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