Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation
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X-LINKED adrenoleukodystrophy is an inherited peroxisomal disease caused by a defective gene located within the Xq28 region of the X chromosome.1 Childhood adrenoleukodystrophy is characterized by ...
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The only proven therapy available for X-ALD, at least for the CCALD phenotype, is bone marrow transplantation.
“So far, the only proven therapy available for X-ALD, at least the CCALD phenotype, is bone marrow transplantation (45,46).”
From Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy (2004) · cites this paper as [45]
The paper reports improvement after bone marrow transplantation in one child with early cerebral disease, while the Discussion (p. 6) says this single case supports further evaluation. It does not establish transplantation as a proven therapy or the only available therapy; the Bone Marrow Transplantation section (p. 3) explicitly calls its benefits unproved. (LLM, conf=0.88)
Experimental — accuracy not yet measuredIn the short term, HSC transplantation reverses neuroinflammation and halts demyelination progression, as indicated by brain MRI.
“In the short term, HSC transplantation reverses neuroinflammation and halts demyelination progression, as indicated by brain MRI [24,392,393].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [24]
The Neurodiagnostic Studies (pp. 3, 5) report that MRI lesions resolved over 6–18 months in one patient, and the Discussion (p. 6) concludes that early transplantation can reverse the demyelinating process. The paper does not establish reversal of neuroinflammation by MRI; it also reports that some lesions initially enlarged after transplantation. (LLM, conf=0.86)
Experimental — accuracy not yet measuredAllogeneic transplantation of hematopoietic stem cells derived from bone marrow can induce remission of childhood cALD.
“In 1990, a single patient showed that allogeneic transplantation of hematopoietic stem cells (HSCs) derived from bone marrow could induce remission of childhood cALD [24], opening the way for dozens of patients to receive the only treatment available for this disease [25] and”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [24]
The positive results of HSC transplantation into cALD patients indicated a role for brain microglia because microglia were thought to originate in bone marrow at that time.
“The positive results of HSC transplantation into cALD patients [24,356] indicated a role for brain microglia because microglia were thought to originate in bone marrow at that time [357].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [24]
Allogenic hematopoietic stem cell transplantation and autologous stem cell-based gene therapy can arrest the inflammatory demyelinating process in X-ALD with a typical delay of 12-18 months.
“Allogenic hematopoietic stem cell transplantation [145,146] and autologous stem cell-based gene therapy [147] can arrest the inflammatory demyelinating process with a typical delay of 12–18 months, which has been attributed to the slow replacement of microglia with bone marrow-derived phagocytes [147,148].”
From Peroxisomes in brain development and function (2016) · cites this paper as [146]
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“Since 1990 and the first success of this therapy [92], allogeneic graft has been indicated for boys with ccALD at an early stage of the disease when a compatible donor exists.”
BackgroundTreatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy
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“the experience in transplantation of an 8-year-old boy diagnosed with ALD following adrenal crisis, who later developed white matter changes in the internal capsule [49].”
BackgroundTransplant Outcomes in Leukodystrophies
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“Adrenoleukodystrophy is a genetic disorder of CNS myelin that can be corrected by allogeneic BMT when this procedure is performed at an early stage of the disease [5,6].”
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Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy
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Background
- Authors
- Aubourg, P., Blanche, S., Jambaqué, I., Rocchiccioli, F., Kalifa, G., Naud-Saudreau, C., Rolland, M.-O., Debré, M., Chaussain, J.-L., Griscelli, C., Fischer, A., & Bougnères, P.-F.
- Affiliations
- Inserm (FR)
- Hôpital Saint-Vincent-de-Paul (FR)
- Centre Hospitalier de Bretagne Sud (FR)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1990-06-28
- Volume
- 322
- Issue
- 26
- Pages
- 1860-1866
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2320665909
- Cited by
- 366
- References
- 29
- Citations by year
- 2026: 9 · 2025: 8 · 2024: 13 · 2023: 4 · 2022: 13 · 2021: 6 · 2020: 7 · 2019: 7 · 2018: 13 · 2017: 9 · 2016: 10 · 2015: 10 · 2014: 12 · 2013: 10 · 2012: 8
- FWCI
- 6.16
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- X-linked adrenoleukodystrophy, bone marrow transplantation, peroxisomal disorders, neurologic manifestations, disease reversal
- MeSH terms
- Adrenoleukodystrophy, Diffuse Cerebral Sclerosis of Schilder, Child, Diseases in Twins, Fatty Acids, Humans, Leukocytes, Magnetic Resonance Imaging, Male, Neurologic Examination, Oxidation-Reduction, Psychometrics, Radiography, Bone Marrow Transplantation
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