Advances in the genetics of hereditary hypertrophic neuropathy in childhood

Robert A. Ouvrier*, Garth A. Nicholson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

Abstract

The peripheral neuropathies constitute approximately 30% of cases seen in a pediatric neuromuscular service. Two-thirds of such cases are chronic. Of the latter group roughly 70% are hereditary, 20% indeterminate and 10% acquired. There are definite chromosomal localizations for an increasing number of the hereditary neuropathies: to the region of the centromere of the X chromosome in an X-linked form of Charcot-Marie-Tooth (CMT) disease, to chromosome 17 in the commonest form of CMT, and to the long arm of chromosome 1, close to the Duffy locus, in a few kindreds with a rarer type of CMT. A duplicated region contains the gene for a 22 kDa myelin protein, abnormality in autosomal dominant CMT. The duplicated region contains the gene for a 22 kDa myelin protein, PMP-22. The gene for PMP-22 is the site of a mutation in the hereditary neuropathy of the Trembler mouse. Some sporadic and inherited cases of chronic hypertrophic demyelinating neuropathy have recently been shown to be associated with specific mutations of the myelin protein P0 and PMP-22 loci. By contrast, a deletion encompassing the PMP-22 locus has been found in tomaculous neuropathy (hereditary liability to pressure palsies). Finally, mutations of the gap junction protein, connexin 32, have been shown to be responsible for X-linked dominant CMT.

Original languageEnglish
Pages (from-to)31-38
Number of pages8
JournalBrain and Development
Volume17
Issue numberSUPPL.
DOIs
Publication statusPublished - 1995
Externally publishedYes

Keywords

  • Childhood
  • Genetic
  • Mutation
  • Myelin
  • Neuropathy

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