title: Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.
abstract: Krabbe's disease or globoid cell leukodystrophy is a rare demyelinating disorder of the central and peripheral nervous systems, the diagnosis of which is based on clinical findings and the determination of low to absent functional activity of the enzyme beta-galactocerebrosidase. We report the presentation of late-onset Krabbe's disease in 2 siblings, a 17-year-old boy and his 16-year-old sister, both with marked deficiency of the enzyme beta-galactocerebrosidase. Only the older sibling manifested clinical signs and symptoms of the disease, while the younger sister remained asymptomatic to date. Molecular analyses disclosed the presence in this family of two novel single point mutations within the gene for galactocerebrosidase.
authors.affiliation: Department of Neurology and Neurosciences, The New York Hospital/Cornell University Medical Center, New York, NY 10021, USA.
authors.forename: G L
authors.initials: GL
authors.lastname: Bernardini
authors.forename: D G
authors.initials: DG
authors.lastname: Herrera
authors.forename: D
authors.initials: D
authors.lastname: Carson
authors.forename: R
authors.initials: R
authors.lastname: DeGasperi
authors.forename: M A
authors.initials: MA
authors.lastname: Gama Sosa
authors.forename: E H
authors.initials: EH
authors.lastname: Kolodny
authors.forename: R
authors.initials: R
authors.lastname: Trifiletti
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001921:Brain / Q000473:pathology; D005260:Female; D005698:Galactosylceramidase / Q000235:genetics*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation
chemical_list: D005698:Galactosylceramidase