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Bone marrow transplantation in young aspartylglucosaminuria mice: improved clearance of lysosomal storage in brain by using wild type as compared to heterozygote donors

Bone Marrow Transplantation volume 34, pages 1001–1003 (2004)Cite this article

Lysosomal storage diseases are a group of approximately 50 disorders in which hematopoietic stem cell transplantation is a potential treatment option. This is based on the ability of cells to excrete the enzyme and to cross-correct recipient cells. In vitro and animal model studies form the basis for risky clinical trials. According to present experience, the outcome of transplantation depends on the specific enzyme and timing of transplantation in relation to the disease onset. In most studied cases, the pathology is reversed in the visceral organs, whereas success in central nervous system varies or is unclear.

In mucopolysaccharidosis type 1 (Hurler syndrome), neurological improvement has been demonstrated in addition to alleviation of visceral symptoms, in a subset of transplanted patients. The skeletal lesions seem to be resistant to transplantation. Transplantation should, however, be performed preferably before the age 18 months. In metachromatic leukodystrophy, stabilization of neuropsychiatric function, but continued progression of peripheral nerve dysfunction and cerebellar deterioration has been reported. However, in early-onset form the presymptomatic timing of transplantation is necessary. Also, in infantile form of Krabbe disease, successful immediate postnatal transplantation necessitates early diagnosis.1

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Authors and Affiliations

  1. Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, Helsinki, POB 104, FIN-00251, Finland

    M Laine, L Ahtiainen & A Jalanko

  2. Hospital for Children and Adolescents, University of Helsinki, Finland

    J Rapola

  3. Molecular Medicine and Gene Therapy, Lund University Hospital, Lund, 22184, Sweden

    J Richter

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  1. M Laine
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Laine, M., Ahtiainen, L., Rapola, J. et al. Bone marrow transplantation in young aspartylglucosaminuria mice: improved clearance of lysosomal storage in brain by using wild type as compared to heterozygote donors. Bone Marrow Transplant 34, 1001–1003 (2004). https://doi.org/10.1038/sj.bmt.1704665

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