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Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease
M A Garvey1, C Toro, S Goldstein
1Human Motor Control Section, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. mgarvey@codon.nih.gov
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.