1. Globoid cell leukodystrophy: A family with both late-infantile and adult type
- Author
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P Verdru, Martin Lammens, Herwig Carton, A. Van Elsen, and René Dom
- Subjects
Adult ,Pathology ,medicine.medical_specialty ,business.industry ,Leukodystrophy ,Cell ,medicine.disease ,Magnetic Resonance Imaging ,Leukodystrophy, Globoid Cell ,Degenerative disease ,medicine.anatomical_structure ,Galactosylceramidase ,Genotype ,medicine ,Krabbe disease ,Humans ,Female ,Dura Mater ,Neurology (clinical) ,Age of onset ,Adult type ,business - Abstract
We present a patient with adult-onset globoid cell leukodystrophy (GBL) who had almost complete deficiency of galactosylceramide beta-galactosidase. A brother of the index patient deteriorated neurologically and died at the age of 4, probably from the late-infantile form of the disease. In this family, two clinical types of GBL are probably different expressions of an identical genotype.
- Published
- 1991
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