Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease

Neurology. 2001 Feb 13;56(3):391-4. doi: 10.1212/wnl.56.3.391.

Abstract

The authors compared stretch-evoked somatosensory evoked potentials (SEP) of 18 type 3 Gaucher disease (GD3) patients (two with progressive myoclonus epilepsy [PME]) with 22 age-matched normal controls and six patients with type 1 (nonneuronopathic) Gaucher disease (GD1). The mean P1-N2 SEP amplitude in GD3 patients was significantly larger than the SEP in controls and in GD1 patients, and there was a significant negative correlation between SEP amplitude and the IQ of GD3 patients. The authors conclude that abnormal cortical inhibition is a unifying feature of GD3 patients and correlates with the degree of cognitive deficit.

MeSH terms

  • Adolescent
  • Adult
  • Brain / physiopathology
  • Child
  • Child, Preschool
  • Electroencephalography
  • Evoked Potentials, Somatosensory / physiology*
  • Female
  • Gaucher Disease / physiopathology*
  • Humans
  • Infant
  • Male
  • Myoclonic Epilepsies, Progressive / physiopathology*