Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease.
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.
Garvey
M A
MA
Human Motor Control Section, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. mgarvey@codon.nih.gov
Toro
C
C
Goldstein
S
S
Altarescu
G
G
Wiggs
E A
EA
Hallett
M
M
Schiffmann
R
R
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005073:Evoked Potentials, Somatosensory / Q000502:physiology*; D005260:Female; D005776:Gaucher Disease / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000503:physiopathology*