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

Bajaj, NPS; Waldman, A; Orrell, R; Wood, NW; Bhatia, KP; (2002) Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging. J NEUROL NEUROSUR PS , 72 (5) 635 - 638.

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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 golactolipids 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 MRL A neurological phenotype is present in heterozygotes and the family shows the extent of homozygotic phenotypic diversity that can be seen in this disorder.

Type: Article
Title: Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging
Keywords: GLOBOID-CELL LEUKODYSTROPHY, GALC GENE, HUMAN GALACTOCEREBROSIDASE, LARGE DELETION, INFANTILE, MUTATIONS, DEFICIENCY, PATIENT, FORMS, CDNA
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/140218
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