Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: A retrospective study
Open accessAbstract
Background: X‐linked adrenoleukodystrophy (X‐ALD) is a peroxisomal metabolic disorder. Male patients develop adrenocortical insufficiency (80 % before 18 years), a chronic myelopathy (adrenomyeloneuropathy (AMN); all in adulthood), or progressive cerebral demyelination (cerebral ALD; 40 % before 18 years). Cerebral ALD is treated with haematopoetic cell transplantation (HCT). It is unknown if AMN still develops in patients with X‐ALD that underwent HCT for cerebral ALD in childhood. Patients and methods: A retrospective observational study was performed by selecting all adult patients with X‐ALD in our cohort that underwent HCT in childhood. Results: This retrospective study found that three out of five patients in our cohort who underwent HCT in childhood developed signs of myelopathy in adulthood. Conclusion: These data suggest that HCT for cerebral ALD in childhood does not prevent the onset of AMN in X‐ALD in adulthood.
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The recent finding that cALD patients having undergone allogeneic HSC transplantation in childhood subsequently developed AMN indicates that AMN axonopathy pathogenesis is largely independent of phagocytic cells.
“Moreover, the recent finding that cALD patients having undergone allogeneic HSC transplantation in childhood subsequently developed AMN [359] indicates that the AMN axonopathy pathogenesis is largely independent of phagocytic cells.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [359]
HSC transplantation into cALD patients does not prevent AMN occurrence at an older age.
“The fact that HSC transplantation into cALD patients does not prevent AMN occurrence at an older age [359]”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [359]
HSCT is thought to only arrest inflammatory demyelination and not impact non-inflammatory axonopathy.
“However, HSCT is thought to only arrest the inflammatory demyelination and not impact the non-inflammatory axonopathy.10”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [10]
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X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
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Self-citationX-linked adrenoleukodystrophy in women: A cross-sectional cohort study
Engelen, M., Barbier, M., Dijkstra, I. M. E., Schür, R., de Bie, R. M. A., Verhamme, C., Dijkgraaf, M. G. W., Aubourg, P. A., Wanders, R. J. A., van Geel, B. M., et al. (2014) · Brain · doi:10.1093/brain/awt361 · Cited by 234 · see citing works
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Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy
Eichler, F., Duncan, C., Musolino, P. L., Orchard, P. J., De Oliveira, S., Thrasher, A. J., Armant, M., Dansereau, C., Lund, T. C., Miller, W. P., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1700554 · Cited by 604 · see citing works
Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.90 · Cited by 275 · see citing works
Self-citationBerger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy
Gupta, A. O., Raymond, G., Pierpont, E. I., Kemp, S., McIvor, R. S., Rayannavar, A., Miller, B., Lund, T. C., & Orchard, P. J. (2022) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2022.2124857 · Cited by 67 · see citing works
“Additionally, in cases where an individual underwent HSCT for advanced cerebral ALD, the clinical findings associated with AMN might prove difficult to distinguish from the neurologic manifestations with advanced cerebral disease.”
InfluentialSelf-citationRevisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works
Özgür-Günes, Y., Chedik, M., Le Stunff, C., Fovet, C.-M., & Bougnères, P. (2022) · Human Gene Therapy · doi:10.1089/hum.2021.293 · Cited by 10 · see citing works
- Authors
- van Geel, B. M., Poll‐The, B. T., Verrips, A., Boelens, J., Kemp, S., & Engelen, M.
- Affiliations
- Department of Neurology Medical Center Alkmaar Alkmaar The Netherlands
- Amsterdam UMC Location University of Amsterdam (NL)
- Canisius-Wilhelmina Ziekenhuis (NL)
- University Medical Center Utrecht (NL)
- Corresponding author
- Engelen, Marc
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2014-12-09
- Volume
- 38
- Issue
- 2
- Pages
- 359-361
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W2026764365
- Cited by
- 78
- References
- 4
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 13 · 2023: 2 · 2022: 8 · 2021: 8 · 2020: 6 · 2019: 8 · 2018: 8 · 2017: 6 · 2016: 4 · 2015: 8
- FWCI
- 4.15
- Type
- journal article
- Language
- en
- Open access
- green
- dspace.library.uu.nl
- Licence
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- Utrecht University Repository (Utrecht University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- X-linked adrenoleukodystrophy, hematopoietic stem cell transplantation, adrenomyeloneuropathy, myelopathy, cerebral adrenoleukodystrophy, peroxisomal disorders, adrenal insufficiency, demyelination, treatment outcomes
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Adult, Age Factors, Child, Child, Preschool, Humans, Male, Retrospective Studies, Spinal Cord Diseases, Time Factors, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Disease Progression, Young Adult
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