Ultrastructural PMP22 expression in inherited demyelinating neuropathies

Ann Neurol. 1996 Jun;39(6):813-7. doi: 10.1002/ana.410390621.


Charcot-Marie-Tooth type 1A (CMT-1A) disease results from a duplication of the PMP22 gene on chromosome 17p11.2. A deletion of the same region causes hereditary neuropathy with liability to pressure palsies (HNPP). We examined the expression of PMP22 in sural nerve biopsies from 2 unrelated patients with CMT-1A, 2 unrelated patients with HNPP, and control patients. The ultrastructural immunocytochemical quantitative analysis of cases of CMT-1A and HNPP showed, respectively, an elevated and reduced expression of PMP22 level compared with controls.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Chromosomes, Human, Pair 17 / genetics*
  • Culture Techniques
  • Gene Expression
  • Humans
  • Immunohistochemistry
  • Multigene Family / genetics
  • Neural Conduction / genetics
  • Sural Nerve / physiopathology*
  • Sural Nerve / ultrastructure*