Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease

J Clin Neurosci. 2005 Jun;12(5):588-9. doi: 10.1016/j.jocn.2004.07.020.

Abstract

In X-linked hereditary demyelinating neuropathies (CMTX), caused by mutations in Connexin 32, mild subclinical CNS involvement is not unusual. We present a young male patient suffering from genetically proven CMTX who presented with permanent bilateral corticospinal tract hyperintensities in cranial MRI -- a finding previously described to be characteristic for amyotrophic lateral sclerosis. MRI seems to be able to visualize corticospinal tract abnormalities, even if subclinical, in CMTX.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / pathology*
  • Brain / physiopathology
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / physiopathology
  • Connexins / genetics
  • DNA Mutational Analysis
  • Evoked Potentials, Motor / genetics
  • Gait Disorders, Neurologic / diagnosis
  • Gait Disorders, Neurologic / genetics
  • Gait Disorders, Neurologic / physiopathology
  • Gap Junction beta-1 Protein
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / physiopathology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Motor Neuron Disease / diagnosis*
  • Motor Neuron Disease / genetics
  • Motor Neuron Disease / physiopathology
  • Mutation / genetics
  • Nerve Fibers, Myelinated / pathology
  • Neural Conduction / genetics
  • Paraparesis / diagnosis
  • Paraparesis / genetics
  • Paraparesis / physiopathology
  • Pyramidal Tracts / pathology*
  • Pyramidal Tracts / physiopathology

Substances

  • Connexins