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Neuropediatrics 1985; 16(3): 137-142
DOI: 10.1055/s-2008-1052558
© Georg Thieme Verlag KG Stuttgart · New York

Late-Onset Globoid Cell Leucodystrophy (Krabbe's Disease)

Clinical and Genetic Delineation of Two Forms and Their Relation to the Early-Infantile FormM. C. B. Loonen1 , O. P. Van Diggelen2 , H. C. Janse2 , W. J. Kleijer2 , W. F. M. Arts3
  • 1Department of Neurology, Erasmus University, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
  • 2Department of Clinical Genetics, Erasmus University, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
  • 3Departments of Neurology and Pathology, Erasmus University, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
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Publication History

Publication Date:
16 May 2008 (online)

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Abstract

A girl is described with a late-onset form of globoid cell leucodystrophy (GLD, Krabbe's disease). Data of this patient and seventeen reported patients with late-onset GLD and cerebroside-β-galactosidase deficiency were compared with those of patients with classical early-infantile GLD. Three phenotypes of GLD are proposed, an early-infantile form, and two late-onset forms. Biochemical studies demonstrated residual activities of cerebroside-β-galactocerebrosidase in the late-onset forms. The KM values were identical in the three GLD phenotypes. Autosomal recessive inheritance is likely for each of the subtypes. Complementation studies by somatic cell hybridization suggest that the mutations in early-infantile and late-onset GLD are allelic.

Key words

Cerebroside-β-galactosidase - Globoid cell leucodystrophy - Krabbe's disease - Lysosomal storage disorders

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