Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients

J Anat. 2002 Apr;200(4):341-56. doi: 10.1046/j.1469-7580.2002.00043.x.

Abstract

Dejerine-Sottas syndrome (DSS) is an early onset demyelinating motor and sensory neuropathy with motor nerve conduction velocities below 12 m s(-1). The phenotype is genetically heterogeneous, and autosomal dominant (AD) as well as autosomal recessive (AR) inheritance is described. Nerve pathology is highly variable. It is generally presumed that clinical course is severe, leading to wheelchair dependency at an early age. In this study we documented the clinical and pathological features in 25 patients with a DSS and we evaluated the clinical course. In our series 14 patients had an AD mutation and six were probably affected by an AR disorder. In three patients inheritance mode was unknown and two patients obviously suffered from an acquired disorder. The clinical course in all patients was documented. Nine of the 25 patients showed a moderate handicap in adult life; walking distance was still at least 1 km. Age at last investigation of the ambulant patients ranged from 22 to 62 years (mean 38.6 years), and ambulant patients were found in all genetic subgroups. We conclude that DSS, although in general denoting a more serious neuropathy than CMT1, does not imply a severe disability or wheelchair dependency in adult life.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • Child
  • Child, Preschool
  • Disability Evaluation*
  • Disease Progression
  • Female
  • Follow-Up Studies
  • Genes, Dominant
  • Genes, Recessive
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / pathology
  • Humans
  • Male
  • Mutation, Missense
  • Myelin Proteins / genetics*
  • Sural Nerve / pathology

Substances

  • Myelin Proteins
  • PMP22 protein, human