Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III)

Neurology. 1997 Aug;49(2):601-3. doi: 10.1212/wnl.49.2.601.

Abstract

Hereditary motor-sensory neuropathy type III (HMSN III) (Dejerine-Sottas disease) is a severe demyelinating neuropathy that is traditionally considered autosomal recessive. We report a father and daughter diagnosed with HMSN III by clinical, electrophysiologic, and pathologic criteria, thus showing that it may be transmitted in an autosomal dominant fashion in selected families.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Electrophysiology
  • Female
  • Genes, Dominant*
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / pathology
  • Hereditary Sensory and Motor Neuropathy / physiopathology
  • Humans
  • Male
  • Middle Aged
  • Pedigree