Krabbe's Disease

M. C. Patterson

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Krabbe's disease is a lysosomal storage disorder caused by deficient activity of galactosylceramidase, and characterized pathologically by the presence of globoid cells, destruction of white matter, and peripheral neuropathy. There is a marked accumulation of psychosine, which can reproduce the pathological phenotype when injected into experimental animals. The classic form of the disease presents in infancy, and rapidly progresses to death in early childhood. Later onset forms have been described, some of which may have a similarly acute course. More often, the phenotype mimics a slowly progressive spinocerebellar degeneration. Stem cell transplantation appears to prolong survival when initiated in the first few weeks of life for children with classic, early infantile disease, but the long-term outcome remains uncertain.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Pages809-810
Number of pages2
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
DOIs
StatePublished - Jan 1 2014

Keywords

  • Galactosylceramidase
  • Globoid cell
  • Krabbe
  • Leukodystrophy
  • Lysosomal storage disease
  • Optic atrophy
  • Peripheral neuropathy
  • Psychosine

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Patterson, M. C. (2014). Krabbe's Disease. In Encyclopedia of the Neurological Sciences (pp. 809-810). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-385157-4.00103-2