title: Globoid cell leukodystrophy: a family with both late-infantile and adult type.
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.
authors.affiliation: Department of Neurology, UZ Gasthuisberg, Leuven, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Verdru
authors.forename: M
authors.initials: M
authors.lastname: Lammens
authors.forename: R
authors.initials: R
authors.lastname: Dom
authors.forename: A
authors.initials: A
authors.lastname: Van Elsen
authors.forename: H
authors.initials: H
authors.lastname: Carton
mesh_terms: D000328:Adult; D004388:Dura Mater / Q000473:pathology; D005260:Female; D005698:Galactosylceramidase / Q000172:deficiency*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008279:Magnetic Resonance Imaging
chemical_list: D005698:Galactosylceramidase