Comment in:
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E.
Section on Molecular Neurogenetics, NIMH/NIH, 49 Convent Drive, MSC 4405, Bethesda, MD 20892-4405, USA.
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.
Publication Types:
PMID: 12970647 [PubMed - indexed for MEDLINE]