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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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“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]
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“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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Metadata
- 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 › Genetics (clinical) › 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
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