Treatment for Krabbe's disease: Finding the combination

Christina R. Mikulka, Mark S. Sands

Research output: Contribution to journalReview article

13 Scopus citations

Abstract

Globoid cell leukodystrophy (GLD) is an autosomal recessive neurodegenerative disorder caused by a deficiency of the lysosomal enzyme galactocerebrosidase (GALC). GALC is responsible for catabolism of certain glycolipids, including the toxic compound galactosylsphingosine (psychosine). Histological signs of disease include the widespread loss of myelin in the central and peripheral nervous systems, profound neruroinflammation, and axonal degeneration. Patients suffering from GLD also display neurological deterioration. Many different individual therapies have been investigated in the murine model of the GLD, the Twitcher mouse, with minimal success. The current standard of care for GLD patients, hematopoietic stem cell transplantation, serves only to delay disease progression and is not an effective cure. However, combination therapies that target different pathogenic mechanisms/pathways have been more effective at reducing histological signs of disease, delaying disease onset, prolonging life span, and improving behavioral/cognitive functions in rodent models of Krabbe's disease. In some cases, dramatic synergy between the various therapies has been observed.

Original languageEnglish
Pages (from-to)1126-1137
Number of pages12
JournalJournal of Neuroscience Research
Volume94
Issue number11
DOIs
StatePublished - Nov 1 2016

Keywords

  • Krabbe's disease
  • bone marrow transplant
  • galactocerebrosidase
  • gene therapy
  • lysosomal storage disease

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