Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Genotype and phenotype classification of 29 patients affected by Krabbe disease

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Case report: ‘AARS2 leukodystrophy’

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Endophenotypical drift in Huntington's disease: a 5-year follow-up study

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Two siblings were diagnosed with adult metachromatic leukodystrophy (MLD) and treated with hematopoietic stem cell transplantation (HSCT). While the older sibling was symptomatic at the time of diagnosis, her younger brother was diagnosed and transplanted at the presymptomatic state. We describe patients' clinical, biochemical, and genetic features, as well as neuropsychological and neurophysiological test results, and brain magnetic resonance imaging from pretransplantation and posttransplantation assessments. Both patients converted to complete donor chimerism and arylsulfatase A levels normalized 3 months posttransplantation. Twelve months posttransplantation, neurological and neuropsychological assessment for both patients showed stabilization, and they remained stable for the 38 months long observation period. To assess the effect of HSCT used as treatment for the rare, adult MLD subtype on survival and stabilization, we performed a systematic literature review and included 7 studies with a total of 26 cases. Of these 26 cases, 6 patients died of HSCT-related complications and 2 patients had graft rejection. Of the remaining 18 patients, 2 patients improved after HSCT, 13 patients stabilized, and 3 patients progressed, suggesting that HSCT potentially benefits adult MLD patients. Larger studies focusing on this subtype are needed and recommendations on criteria for HSCT in adult MLD need to be evolved.

Original languageEnglish
JournalJIMD Reports
Volume60
Issue number1
Pages (from-to)96-104
Number of pages9
ISSN2192-8304
DOIs
Publication statusPublished - Jul 2021

Bibliographical note

© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.

ID: 68397660