X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment
Abstract
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues. Virtually all male X-ALD patients develop adrenocortical insufficiency in childhood and progressive myelopathy and peripheral neuropathy in adulthood. A subset of male patients, however, develops a fatal cerebral demyelinating disease, cerebral adrenoleukodystrophy. Female patients also develop progressive myelopathy and peripheral neuropathy, but generally at a later age than males. They only very rarely develop adrenocortical insufficiency or cerebral adrenoleukodystrophy. This review proposes to simplify the classification of the clinical spectrum of X-ALD and reviews the largely unresolved pathophysiological mechanisms and the current treatment options.
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Identical ABCD1 variants can result in highly diverse clinical phenotypes, suggesting additional factors influence disease expression.
“Nonetheless, identical variants can result in highly diverse clinical phenotypes, suggesting the presence of additional factors that influence the expression of the disease (13).”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [13]
AMN has near 100% lifetime penetrance; all male and possibly most female patients will develop at least some symptoms of AMN late in life.
“It was recently reported that all male and possibly even most female patients will develop at least some symptoms of AMN late in life and thus AMN has a near 100% lifetime penetrance.12,14,23”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [23]
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- Authors
- Engelen, M., Kemp, S., & Poll-The, B.-T.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Venue
- Current Neurology and Neuroscience Reports
- Published
- 2014-08-13
- Volume
- 14
- Issue
- 10
- Pages
- 486-486
- ISSN
- 1528-4042 (ISSN-L)
- 1534-6293
- OpenAlex
- W2081051956
- Cited by
- 187
- References
- 84
- Citations by year
- 2026: 7 · 2025: 10 · 2024: 33 · 2023: 19 · 2022: 18 · 2021: 25 · 2020: 18 · 2019: 18 · 2018: 7 · 2017: 15 · 2016: 6 · 2015: 10
- FWCI
- 1.31
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Current Neurology and Neuroscience Reports (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Data Archiving and Networked Services (DANS) (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 › Neurology › Neurological diseases and metabolism
- Keywords
- X-linked adrenoleukodystrophy, ABCD1 gene, very long chain fatty acids, inborn errors of metabolism, adrenal insufficiency, cerebral adrenoleukodystrophy, myelopathy, peripheral neuropathy, brain demyelination, pathogenesis, treatment options
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Addison Disease, Adrenoleukodystrophy, Humans, Mutation, Peripheral Nervous System Diseases, Spinal Cord Diseases, Disease Progression, ATP-Binding Cassette Transporters
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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