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X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

Engelen, Marc, Kemp, Stephan, Poll-The, Bwee-Tien·2014·Current Neurology and Neuroscience Reports

DOI 10.1007/s11910-014-0486-0

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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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Authors: Engelen, M., Kemp, S., & Poll-The, B.-T.
Affiliations: Amsterdam UMC Location University of Amsterdam (NL)
ORCID: Engelen, Marc
Kemp, Stephan
Venue: Current Neurology and Neuroscience Reports
Publisher: Springer Science and Business Media LLC
Published: 2014-08-13
Volume: 14
Issue: 10
Pages: 486-486
ISSN: 1528-4042 (ISSN-L)
1534-6293
DOI: 10.1007/s11910-014-0486-0
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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X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

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