Edinburgh Research Explorer

Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging

Research output: Contribution to journalArticle

  • N P S Bajaj
  • A Waldman
  • R Orrell
  • N W Wood
  • K P Bhatia

Related Edinburgh Organisations

Original languageEnglish
Pages (from-to)635-8
Number of pages4
JournalJournal of Neurology, Neurosurgery & Psychiatry
Volume72
Issue number5
Publication statusPublished - May 2002

Abstract

Krabbe's disease (globoid cell leucodystrophy) is a disorder involving the white matter of the peripheral and central nervous systems. Mutations in the gene for the lysosomal enzyme galactocerebrosidase (GALC) result in low enzymatic activity and decreased ability to degrade galactolipids found in myelin. The disease is classically of infantile onset, but adult onset cases have been reported. Magnetic resonance imaging (MRI) of the brain shows characteristic abnormalities. A unique family with Krabbe's disease is described, with proven GALC deficiency but normal MRI. A neurological phenotype is present in heterozygotes and the family shows the extent of homozygotic phenotypic diversity that can be seen in this disorder.

    Research areas

  • Adult, Age of Onset, Brain, Diagnosis, Differential, Galactolipids, Galactosylceramidase, Glycolipids, Humans, Leukodystrophy, Globoid Cell, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Pedigree, Phenotype, Spastic Paraplegia, Hereditary, Case Reports, Journal Article

ID: 46191782