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

The authors compared stretch-evoked somatosensory evoked potentials (SEP) o f 18 type 3 Gaucher disease (GD3) patients (two with progressive myoclonus epilepsy [PME]) with 22 age-matched normal controls and six patients with t ype 1 (nonneuronopathic) Gaucher disease (GD1). The mean P1-N2 SEP amplitud e 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 co rtical inhibition is a unifying feature of GD3 patients and correlates with the degree of cognitive deficit.