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

Overview

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 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 1, 1994

Research

keywords

  • Charcot-Marie-Tooth Disease
  • Chromosomes, Human, Pair 1
  • Sural Nerve

Identity

Scopus Document Identifier

  • 0028079552

PubMed ID

  • 7511317

Additional Document Info

volume

  • 87

issue

  • 1