Globoid cell leukodystrophy: a family with both late-infantile and adult type.
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.
Verdru
P
P
Department of Neurology, UZ Gasthuisberg, Leuven, Belgium.
Lammens
M
M
Dom
R
R
Van Elsen
A
A
Carton
H
H
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
D005698:Galactosylceramidase