Homozygous hypertrophic hereditary motor and sensory neuropathies

A. Sghirlanzoni, D. Pareyson, R. Marazzi, G. Cavaletti, E. Bellone, P. Mandich, M. R. Balestrini, D. Riva

Research output: Contribution to journalArticlepeer-review

Abstract

We compared 25 autosomal dominant hereditary motor and sensory neuropathy (HMSN) type I patients with 7 subjects affected by hypertrophic HMSN with non-dominant inheritance. All the autosomal dominant HMSN I cases carried the chromosome 17p11.2 duplication, providing evidence that it is widely represented in HMSN I families. The second group included: Two siblings born to unrelated, unaffected parents and suffering from hypertrophic HMSN of strikingly different severity; two sisters with HMSN I phenotype, born to first-cousin unaffected parents; two brothers with HMSN III phenotype born to unrelated parents both showing HMSN II phenotype; a child with classic HMSN III phenotype, born to unrelated, unaffected parents. The 17p11.2 duplication was not found in any of the patients of the second series or in their parents. Our data provide further evidence that: HMSN III is heterogeneous and encompasses the homozygous expressions of different neuropathic genes; it is advisable to separate autosomal recessive hypertrophic HMSN from dominant HMSN Ia, because they appear to be due to different DNA mutations.

Original languageEnglish
Pages (from-to)5-14
Number of pages10
JournalItalian Journal of Neurological Sciences
Volume15
Issue number1
DOIs
Publication statusPublished - Feb 1994

Keywords

  • 17p11.2 duplication
  • Charcot-Marie-Tooth disease
  • Dejerine-Sottas disease
  • demyelination
  • hereditary motor and sensory neuropathy
  • hypomyelination

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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