The DOI matches its Crossref record; 28 of the 29 references it cites were found in a registry or an index.
Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation
Open accessAbstract
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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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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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Citations
Cites
Perivascular microglial cells of the CNS are bone marrow-derived and present antigen in vivo
Hickey, W. F., & Kimura, H. (1988) · Science · doi:10.1126/science.3276004 · Cited by 1,466
Neurobehavioral changes associated with caudate lesions
Mendez, M. F., Adams, N. L., & Lewandowski, K. S. (1989) · Neurology · doi:10.1212/wnl.39.3.349 · Cited by 392
Aphasia With Nonhemorrhagic Lesions in the Basal Ganglia and Internal Capsule
Damásio, A. R., Damasio, H., Rizzo, M., Varney, N. R., & Gersh, F. (1982) · Archives of Neurology · doi:10.1001/archneur.1982.00510130017003 · Cited by 375
Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy
Moser, H. W., Moser, A. E., Singh, I., & OʼNeill, P. (1984) · Annals of Neurology · doi:10.1002/ana.410160603 · Cited by 258
Lazo, O., Contreras, M., Hashmi, M., Stanley, W. S., Irazú, C. E., & Singh, I. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.20.7647 · Cited by 219
Dietary erucic acid therapy for X‐linked adrenoleukodystrophy
Rizzo, W. B., Leshner, R. T., Odone, A., Dammann, A. L., Craft, D. A., Jensen, M. E., Jennings, S. S., Davis, S., Jaitly, R., & Sgro, J. A. (1989) · Neurology · doi:10.1212/wnl.39.11.1415 · Cited by 207
The Application of Bone Marrow Transplantation to the Treatment of Genetic Diseases
Parkman, R. (1986) · Science · doi:10.1126/science.3520819 · Cited by 200
Donor-Derived Cells in the Central Nervous System of Twitcher Mice After Bone Marrow Transplantation
Hoogerbrugge, P. M., Suzuki, K., Suzuki, K., Poorthuis, B. J. H. M., Kobayashi, T., Wagemaker, G., & van Bekkum, D. W. (1988) · Science · doi:10.1126/science.3278379 · Cited by 182
Whitcomb, R. W., Linehan, W. M., & Knazek, R. A. (1988) · Journal of Clinical Investigation · doi:10.1172/jci113292 · Cited by 168
Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation
Krivit, W. A., Shapiro, E., Kennedy, W. R., Lipton, M. E., Lockman, L. A., Smith, S. D., Summers, C. G., Wenger, D. A., Tsai, M. Y., Ramsay, N. K. C., et al. (1990) · New England Journal of Medicine · doi:10.1056/nejm199001043220106 · Cited by 146
Research works printed but not linked: 4
- Moser, 1987, Crit Rev Neurobiol, 3, 29
- Brown, 1982, Johns Hopkins Med J, 151, 164
- Murphy, 1982, Ann Neurol, 12, 220
- Duchen LW, Eicher EM, Jacobs JM, Scaravilli F, Teixeira F. A globoid cell type of leukodystrophy in the mouse: the mutant twitcher. In: Baumann N, ed. Neurological mutants affecting myelination. New York: Elsevier, 1980:107–14.
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Items 101–106 of 106
Unterrainer, G. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.18.2609 · Cited by 30
The pathology of X-linked adrenoleukodystrophy: Tissue specific changes as a clue to pathophysiology
Yska, H. A. F., Engelen, M., & Bugiani, M. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03105-0 · Cited by 20
“Due to this specific involvement of the immune system, Powers and colleagues proposed an inflammatory cytokine-mediated mechanism as opposed to a specific immune-mediated attack, as in multiple sclerosis (MS), as the cause for myelin destruction [48].”
BackgroundRevisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11
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
Role for peroxisome proliferator-activated receptor-gamma in Alzheimer's disease.
van Geel (2001) · Open Repository and Bibliography (University of Luxembourg) · doi:10.1002/1531-8249(20010201)49:2 · Cited by 7
Adrenoleukodystrophy: cortical hypoperfusion demonstrated with 99mTc-HMPAO SPECT
Al Suhaili, A. R., Hertecant, J., & Sztriha, L. (1994) · Journal of Child Neurology · doi:10.1177/088307389400900312 · Cited by 4
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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