A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8

Victor V. Ionasescu, Jun Kimura, Charles C. Searby, Wilbur L. Smith, Mark A. Ross, Rebecca Ionasescu

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


The patient is a 55-year-old black male who belongs to a large family with 9 affected relatives with autosomal dominant Dejerine-Sottas neuropathy (DSN). Onset of his condition was at 2 years of age with steppage gait followed by severe progressive weakness, atrophy, and sensory loss of his legs and hands accompanied by areflexia and thoracolumbar kyphoscoliosis. The patient became wheelchair confined at age 38. At around age 42, the left shoulder became dislocated and the humeral head underwent aseptic necrosis (Charcot joint). Nerve conduction studies showed absent motor and sensory responses for all major nerves tested. Genetic linkage suggested mapping of this DSN gene on chromosome 8qter. A younger brother with similar neurological findings also demonstrated Charcot joints with bone destruction of the joints of the fourth and fifth fingers.

Original languageEnglish (US)
Pages (from-to)319-323
Number of pages5
JournalMuscle and Nerve
Issue number3
StatePublished - Mar 1996


  • Charcot joint
  • Dejerine-Sottas neuropathy
  • chromosome 8
  • linkage

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)


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