Predominance of the adrenomyeloneuropathy phenotype of X‐linked adrenoleukody strophy in the Netherlands: A survey of 30 kindreds
Abstract
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal beta-oxidation associated with accumulation of saturated very long-chain fatty acids, which results in central and peripheral demyelination and in impaired function of adrenal cortex and testes. The phenotypic expression is highly variable, childhood cerebral ALD (CCALD) and adrenomyeloneuropathy (AMN) being the main variants. We explored the 30 Dutch kindreds well known to the Dutch X-ALD/AMN Study Group and phenotyped 77 male patients: 35 (46%) had AMN and 24 (31%) CCALD or adolescent cerebral ALD (AdolCALD). These percentages differ significantly from previous reports, in which 25 to 28% of the patients developed AMN and 53 to 57% CCALD or AdolCALD. Our findings indicate that--at least in the Netherlands--AMN may be the most frequent phenotype of X-ALD.
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AMN is the most common X-ALD phenotype.
“AMN is the most common X-ALD phenotype [van Geel et al., 1994].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as van Geel et al., 1994
Prevalence rates of around 1:200,000 for males and 1:100,000 for females were estimated for the Dutch and Norwegian populations.
“In addition to incidence rates, prevalence rates of around 1:200,000 for males and 1:100,000 for females were estimated by thorough investigations carried out for the Dutch and the Norwegian populations.14,21”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [21]
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Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation · doi:10.1002/humu.1227 · Cited by 332 · see citing works
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 · see citing works
X-linked adrenoleukodystrophy in women: A cross-sectional cohort study
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., et al. (2014) · Brain · doi:10.1093/brain/awt361 · Cited by 234 · see citing works
Hein, S., Schonfeld, P., Kahlert, S., & Reiser, G. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn066 · Cited by 180 · see citing works
Berger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
Lipid metabolism in peroxisomes in relation to human disease
Wanders, R. J. A., & Tager, J. M. (1998) · Molecular Aspects of Medicine · doi:10.1016/s0098-2997(98)00003-x · Cited by 122 · see citing works
Kemper, A. R., Brosco, J., Comeau, A. M., Green, N. S., Grosse, S. D., Jones, E., Kwon, J. M., Lam, W. K. K., Ojodu, J., Prosser, L. A., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2016.68 · Cited by 109 · see citing works
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works
- Authors
- van Geel, B. M., Assies, J., Weverling, G. J., & Barth, P. G.
- Affiliations
- Departments of Neurology and Pediatrics (Drs. van Geel and Barth), Internal Medicine and Psychiatry (Dr. Assies), and Clinical Epidemiology and Biostatistics (Dr. Weverling), Academic Medical Center, Amsterdam, the Netherlands.
- Amsterdam UMC Location University of Amsterdam (NL)
- ORCID
- Barth, Peter G.
- Venue
- Neurology
- Published
- 1994-12
- Volume
- 44
- Issue
- 12
- Pages
- 2343-2343
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2004346519
- Cited by
- 90
- References
- 0
- Citations by year
- 2026: 1 · 2025: 3 · 2022: 2 · 2021: 1 · 2020: 3 · 2018: 3 · 2016: 4 · 2015: 3 · 2014: 3 · 2013: 2
- FWCI
- 4.99
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (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
- X-linked adrenoleukodystrophy, adrenomyeloneuropathy, childhood cerebral adrenoleukodystrophy, peroxisomal beta-oxidation, very long chain fatty acids, demyelination, adrenal dysfunction, testicular dysfunction, phenotype distribution
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Adult, Brain Diseases, Child, Humans, Male, Middle Aged, Netherlands, Phenotype, X Chromosome, Age of Onset
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