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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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“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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“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]
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“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]
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“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]
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“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]
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“Allogeneic bone marrow transplantation or hematopoietic stem cell transplantation [36,37] and also gene therapy of autologous CD34 hematopoietic stem cells, providing intact ABCD1, can arrest the inflammatory cerebral demyelination in patients at early stages of cerebral ALD [38].”
Background
Metadata
- 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 › Genetics (clinical) › 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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