Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
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.
Goker-Alpan
Ozlem
O
Section on Molecular Neurogenetics, NIMH/NIH, 49 Convent Drive, MSC 4405, Bethesda, MD 20892-4405, USA.
Schiffmann
Raphael
R
Park
Joseph K
JK
Stubblefield
Barbara K
BK
Tayebi
Nahid
N
Sidransky
Ellen
E
D017668:Age of Onset; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype