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Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case

  • Madeleine E. SharpEmail author
  • Cornelia Laule
  • Stephen Nantel
  • Burkhard Mädler
  • Ritu B. Aul
  • Samuel Yip
  • Sandra Sirrs
Case Report
Part of the JIMD Reports book series (JIMD, volume 10)

Abstract

Krabbe disease is an autosomal recessive demyelinating lysosomal storage disorder caused by a deficiency of galactocerebrosidase. The adult-onset variant is very rare. Hematopoietic stem cell transplantation (HSCT) is reported to be successful in treating infants with Krabbe disease prior to the onset of symptoms, but there are no reported cases of its use for adult-onset disease. We report the first follow-up data for a patient with adult-onset Krabbe disease who underwent HSCT at age 41, 16 years after the onset of symptoms. HSCT resulted in a sustained normalization of peripheral GALC enzyme activity, halted the progression of symptoms at 24 months post-allograft, and led to improvements in gait and balance. Serial imaging also confirmed that no significant progression of demyelination has occurred. Although long-term follow-up is needed to confirm the effects of HSCT, our 24-month results suggest that HSCT is a viable therapeutic option for symptomatic patients with adult-onset Krabbe disease.

Keywords

Hematopoietic Stem Cell Transplant Graft Versus Host Disease Lysosomal Storage Disorder Axonal Neuropathy Primary Progressive Multiple Sclerosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Madeleine E. Sharp
    • 1
    • 7
    • 8
    Email author
  • Cornelia Laule
    • 2
  • Stephen Nantel
    • 3
  • Burkhard Mädler
    • 4
  • Ritu B. Aul
    • 5
  • Samuel Yip
    • 1
  • Sandra Sirrs
    • 6
  1. 1.Department of Medicine, Division of NeurologyUniversity of British ColumbiaVancouverCanada
  2. 2.Department of Pathology & Laboratory Medicine, Department of RadiologyUniversity of British ColumbiaVancouverCanada
  3. 3.Department of Medicine, Division of HematologyUniversity of British ColumbiaVancouverCanada
  4. 4.Department of NeurosurgeryUniversity of Bonn Medical CentreBonnGermany
  5. 5.Department Medical GeneticsUniversity of British ColumbiaVancouverCanada
  6. 6.Department of Medicine, Division of Endocrinology and Metabolic DiseasesUniversity of British ColumbiaVancouverCanada
  7. 7.Gordon & Leslie Diamond Health Care CentreVancouverCanada
  8. 8.Neurological InstituteColumbia University Medical CentreNew YorkUSA

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