The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder
Abstract
Adrenoleukodystrophy (ALD) is caused by mutations in an ATP-binding-cassette transporter located in the peroxisomal membrane, which result in a fatal demyelinating disease in boys and a milder phenotype in men and some heterozygous women. There is no molecular signature to indicate a particular clinical course. The underlying molecular mechanisms of this disease have yet to be targeted clinically. Is the increase in very-long-chain fatty acids (VLCFA) the disease trigger? Why is there no phenotype in ALD null mice that show this increase? Do VLCFA destabilize human myelin, once formed, and lead to the inflammation seen in this genetic disease? Bone-marrow transplantation might save a child by providing normal brain macrophages and allowing myelin regeneration early in disease. The processes that underlie ALD challenge neuroscientists to elucidate peroxisomal transporter functions in the nervous system and to pursue the gene-transfer strategies leading to remyelination until a preventive therapy emerges.
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A similar X-ALD frequency of 1:20,000 was reported in France.
“A similar frequency (1:20,000) was reported in France [Dubois-Dalcq et al., 1999].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Dubois-Dalcq et al., 1999
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“ALD protein is an integral membrane protein localized in the peroxisomal membrane that plays a role in the transport of very long chain fatty acids that accumulate in the white matter of ALD patients [1,2].”
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- Authors
- Dubois-Dalcq, M., Feigenbaum, V., & Aubourg, P.
- Affiliations
- Institut Pasteur (FR)
- Inserm (FR)
- Venue
- Trends in Neurosciences
- Publisher
- Elsevier BV
- Published
- 1999-01
- Volume
- 22
- Issue
- 1
- Pages
- 4-12
- ISSN
- 0166-2236 (ISSN-L)
- OpenAlex
- W2072956699
- Cited by
- 121
- References
- 6
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2023: 2 · 2021: 1 · 2019: 1 · 2017: 1 · 2016: 5 · 2015: 3 · 2014: 3 · 2013: 5 · 2012: 3
- FWCI
- 1.45
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Neurosciences (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
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Keywords
- X-linked adrenoleukodystrophy, peroxisomal disorders, ABCA13, ABCD1, ABCD2, ABCD3, ABCD4
- MeSH terms
- Adrenoleukodystrophy, Demyelinating Diseases, Humans, Genetic Linkage, Neurobiology, X Chromosome, Peroxisomal Disorders
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