title: Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
abstract: Neuronopathic Gaucher disease, classically divided into two types, can have a continuum of phenotypes, often defying categorization. Nine children had an intermediate phenotype characterized by a delayed age of onset but rapidly progressive neurological disease, including refractory seizures and oculomotor abnormalities. There was genotypic heterogeneity among these patients.
authors.affiliation: Section on Molecular Neurogenetics, NIMH/NIH, 49 Convent Drive, MSC 4405, Bethesda, MD 20892-4405, USA.
authors.forename: Ozlem
authors.initials: O
authors.lastname: Goker-Alpan
authors.forename: Raphael
authors.initials: R
authors.lastname: Schiffmann
authors.forename: Joseph K
authors.initials: JK
authors.lastname: Park
authors.forename: Barbara K
authors.initials: BK
authors.lastname: Stubblefield
authors.forename: Nahid
authors.initials: N
authors.lastname: Tayebi
authors.forename: Ellen
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D017668:Age of Onset; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype