Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

Ann Neurol. 1994 Jun;35(6):704-8. doi: 10.1002/ana.410350611.

Abstract

Hereditary neuropathy with liability to pressure palsies (NHPP) is an autosomal dominant disease of peripheral nerves, characterized by recurrent focal neuropathies often with an underlying asymptomatic polyneuropathy. We report the clinical, electrophysiological, and histopathological findings in three families with HNPP and confirm the presence of a deletion on chromosome 17p11.2, including all the markers known to be duplicated in Charcot-Marie-Tooth disease type 1A. This deletion appears to be the underlying molecular deficit in this disease and provides additional evidence for the importance of this locus for peripheral nerve function.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 17*
  • DNA / analysis
  • Electrophysiology / methods
  • Female
  • Genetic Markers
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / pathology
  • Hereditary Sensory and Motor Neuropathy / physiopathology
  • Humans
  • Male
  • Motor Neurons / physiology
  • Neural Conduction
  • Pedigree
  • Peroneal Nerve / pathology
  • Peroneal Nerve / physiopathology
  • Peroneal Nerve / ultrastructure
  • Sural Nerve / pathology
  • Sural Nerve / ultrastructure
  • Ulnar Nerve / physiopathology

Substances

  • Genetic Markers
  • DNA