title: Study of multimodal evoked potentials in patients with type 1 Gaucher's disease.
abstract: To detect early subclinical nervous dysfunction in Gaucher's disease type 1, we carried out motor, brainstem auditory, visual, and somatosensory evoked potentials in 17 patients with Gaucher's disease type 1. Central motor evoked potential abnormalities were found in nine patients (69.2%), consisting of an increased motor threshold in all, with prolonged central motor conduction time in two patients. Brainstem auditory evoked potentials were abnormal in five patients (31.2%), and the most frequent abnormality was a bilateral increased I-III interpeak latency. Visual evoked potentials showed a delayed latency of the P100 wave in four patients (25%). Somatosensory evoked potential abnormalities were found in three patients (18.7%), consisting of an increased N13-N20 interval in two patients and a not reproducible N13 wave in one patient. Our findings suggest that the multimodal evoked potential approach provides information about nervous subclinical damage in Gaucher's disease type 1; transcranial magnetic stimulation proved to be the most sensitive tool. Early detection of subclinical neurologic dysfunction can be useful in view of more effective therapeutic strategies.
authors.affiliation: Department of Neurological Sciences, Federico II University, Naples, Italy. anperret@unina.it
authors.forename: Anna
authors.initials: A
authors.lastname: Perretti
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: Pietro
authors.initials: P
authors.lastname: Balbi
authors.forename: Luigi
authors.initials: L
authors.lastname: Titomanlio
authors.forename: Lucia
authors.initials: L
authors.lastname: Marcantonio
authors.forename: Mariangela
authors.initials: M
authors.lastname: Iapoce
authors.forename: Anna Rita
authors.initials: AR
authors.lastname: Frascogna
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
mesh_terms: D000293:Adolescent; D000328:Adult; D001933:Brain Stem / Q000503:physiopathology*; D002540:Cerebral Cortex / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005071:Evoked Potentials / Q000502:physiology*; D005260:Female; D005776:Gaucher Disease / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010812:Physical Stimulation; D011930:Reaction Time / Q000502:physiology