title: Gaucher patients with oculomotor abnormalities do not have a unique genotype.
abstract: Sixteen non-Ashkenazic American children with Gaucher disease who demonstrate slowing of the horizontal saccades are described. Attempts to correlate this specific clinical phenotype with a unique genotype were unsuccessful. Focusing on the three most common mutations, at least five different genotypes were present in these patients. Children with this isolated oculomotor abnormality generally had a diffusely slowed background on EEG, but an otherwise normal neurologic examination, and exhibited earlier and more severe systemic manifestations and mortality. This study emphasizes the need for careful sequential neuro-ophthalmologic examinations in Gaucher patients and the need for caution in attempting to make clinical predictions regarding the course of Gaucher disease on the basis of current DNA mutational analysis.
authors.affiliation: Section on Molecular Neurogenetics, National Institute of Mental Health, ADAMHA, Bethesda, MD 20892.
authors.forename: E
authors.initials: E
authors.lastname: Sidransky
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: B K
authors.initials: BK
authors.lastname: Stubblefield
authors.forename: J
authors.initials: J
authors.lastname: Currie
authors.forename: E J
authors.initials: EJ
authors.lastname: FitzGibbon
authors.forename: E I
authors.initials: EI
authors.lastname: Ginns
mesh_terms: D000293:Adolescent; D000483:Alleles; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D015835:Ocular Motility Disorders / Q000235:genetics*; D010641:Phenotype; D012438:Saccades