The DOI matches its Crossref record; 83 of the 84 references it cites were found in a registry or an index.
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]
In the citing paper
“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]
Citations
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Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
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Human disorders of peroxisome metabolism and biogenesis
Waterham, H. R., Ferdinandusse, S., & Wanders, R. J. A. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.11.015 · Cited by 384
The peroxisome: an update on mysteries 2.0
Islinger, M., Völkl, A., Fahimi, H. D., & Schrader, M. (2018) · Histochemistry and Cell Biology · doi:10.1007/s00418-018-1722-5 · Cited by 296
Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.90 · Cited by 275
Self-citationLiu, X. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-7647-4_2 · Cited by 269
The physiological functions of human peroxisomes
Wanders, R. J. A., Baes, M., Ribeiro, D., Ferdinandusse, S., & Waterham, H. R. (2023) · Physiological Reviews · doi:10.1152/physrev.00051.2021 · Cited by 228
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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