X-linked adrenoleukodystrophy in women: A cross-sectional cohort study
Abstract
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very long-chain fatty acids. A defect in the ABCD1 protein results in elevated levels of very long-chain fatty acids in plasma and tissues. The clinical spectrum in males with X-linked adrenoleukodystrophy has been well described and ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. As in many X-linked diseases, it was assumed that female carriers remain asymptomatic and only a few studies addressed the phenotype of X-linked adrenoleukodystrophy carriers. These studies, however, provided no information on the prevalence of neurological symptoms in the entire population of X-linked adrenoleukodystrophy carriers, since data were acquired in small groups and may be biased towards women with symptoms. Our primary goal was to investigate the symptoms and their frequency in X-linked adrenoleukodystrophy carriers. The secondary goal was to determine if the X-inactivation pattern of the ABCD1 gene was associated with symptomatic status. We included 46 X-linked adrenoleukodystrophy carriers in a prospective cross-sectional cohort study. Our data show that X-linked adrenoleukodystrophy carriers develop signs and symptoms of myelopathy (29/46, 63%) and/or peripheral neuropathy (26/46, 57%). Especially striking was the occurrence of faecal incontinence (13/46, 28%). The frequency of symptomatic women increased sharply with age (from 18% in women <40 years to 88% in women >60 years of age). Virtually all (44/45, 98%) X-linked adrenoleukodystrophy carriers had increased very long-chain fatty acids in plasma and/or fibroblasts, and/or decreased very long-chain fatty acids beta-oxidation in fibroblasts. We did not find an association between the X-inactivation pattern and symptomatic status. We conclude that X-linked adrenoleukodystrophy carriers develop an adrenomyeloneuropathy-like phenotype and there is a strong association between symptomatic status and age. X-linked adrenoleukodystrophy should be considered in the differential diagnosis in women with chronic myelopathy and/or peripheral neuropathy (especially with early faecal incontinence). ABCD1 mutation analysis deserves a place in diagnostic protocols for chronic non-compressive myelopathy.
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The majority of women with ALD are not merely carriers but may develop some degree of myeloneuropathy leading to gait, bowel, and bladder dysfunction.
“It is becoming increasingly recognized that the majority of women are not merely carriers, but may develop some degree of myeloneuropathy leading to gait, bowel, and bladder dysfunction [14,15,63].”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [14]
Peripheral neuropathy is a common feature of ALD but is rarely the presenting symptom.
“Peripheral neuropathy is a common feature of ALD but is rarely the presenting symptom.7,14-16”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [7]
Female patients with ALD remain asymptomatic in childhood and adolescence, while in adulthood myeloneuropathy symptoms can arise.
“Female patients with ALD remain asymptomatic in childhood and adolescence, while in adulthood, myeloneuropathy symptoms can arise.7,14”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [7]
Women with ALD develop myeloneuropathy, whereas men can develop all three core syndromes.
“Women develop myeloneuropathy; men can develop all 3 syndromes.7-9”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [7]
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 [12]
In a prospective cross-sectional cohort of 46 heterozygous X-ALD females, 18% of women under age 40 had symptoms, while 88% in the age group 60 years or older were symptomatic.
“A recent prospective cross-sectional cohort study including 46 heterozygous X-ALD females reported that 18% of women under the age of 40 years had symptoms but in the age group 60 years or older, 88% were symptomatic.12”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [12]
The majority of female carriers have elevated plasma VLCFA levels, although to a lesser extent than male patients, and the rate of beta-oxidation of VLCFAs is decreased in fibroblasts.
“However, the majority of female carriers have elevated plasma VLCFA levels, although to a lesser extent than male patients, and the rate of beta-oxidation of VLCFAs was found to be decreased in fibroblasts.12”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [12]
A high number, if not all, heterozygous females develop at least some symptoms of AMN, and the severity of symptoms increases with age.
“During recent more detailed studies, it became apparent that a high number, if not all, of the heterozygous females develop at least some symptoms of AMN and that the severity of symptoms increases with age.12,24,89”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [12]
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- Authors
- Engelen, M., Barbier, M., Dijkstra, I. M. E., Schür, R., de Bie, R. M. A., Verhamme, C., Dijkgraaf, M. G. W., Aubourg, P. A., Wanders, R. J. A., van Geel, B. M., de Visser, M., Poll–The, B. T., & Kemp, S.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Assistance Publique – Hôpitaux de Paris (FR)
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2014-01-29
- Volume
- 137
- Issue
- 3
- Pages
- 693-706
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2150643970
- Cited by
- 234
- References
- 48
- Citations by year
- 2026: 15 · 2025: 17 · 2024: 23 · 2023: 10 · 2022: 28 · 2021: 35 · 2020: 19 · 2019: 18 · 2018: 18 · 2017: 9 · 2016: 14 · 2015: 16 · 2014: 11
- FWCI
- 11.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (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 › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- female carriers, ABCD1 gene, peroxisomal disorders, very long chain fatty acids, adrenomyeloneuropathy, myelopathy, peripheral neuropathy, fecal incontinence, X chromosome inactivation, peroxisomal beta-oxidation, differential diagnosis
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Adult, Age Factors, Aged, Cross-Sectional Studies, Evoked Potentials, Female, Heterozygote, Humans, Middle Aged, Peripheral Nervous System Diseases, Prospective Studies, Spinal Cord Diseases, Cohort Studies, ATP-Binding Cassette Transporters, X Chromosome Inactivation, Young Adult
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