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 ocu...

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Bibliographic Details
Published in:	The Journal of pediatrics Vol. 143; no. 2; pp. 273 - 276
Main Authors:	Goker-Alpan, Ozlem, Schiffmann, Raphael, Park, Joseph K, Stubblefield, Barbara K, Tayebi, Nahid, Sidransky, Ellen
Format:	Journal Article
Language:	English
Published:	New York, NY Mosby, Inc 01-08-2003 Elsevier
Subjects:	Age of Onset Biological and medical sciences Female Gaucher Disease - classification Gaucher Disease - genetics Humans Infant Male Medical sciences Metabolic diseases Miscellaneous Nervous system involvement in other diseases. Miscellaneous Neurology Other metabolic disorders Phenotype GD ERT Human Nervous system diseases Metabolic diseases Genotype Neuropathy Enzymopathy Cerebral disorder Genetic disease Continuum Heterogeneity Phenotype Gaucher disease Central nervous system disease Lipoidosis Child
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0022-3476 1097-6833
DOI:	10.1067/S0022-3476(03)00302-0