Adrenoleukodystrophy: Clinical and biochemical manifestations in carriers
Abstract
We studied 21 women from four definite adrenoleukodystrophy (ALD) kinships . Nine women had a spastic paraparesis, including two with peripheral neuropathy. Fifteen women were assigned heterozygote status based on abnormal very-long-chain fatty acid ( VLCFA ) concentrations in plasma, fibroblasts, or both. These 15 included those with abnormal examinations and all women judged to be carriers by clinical criteria. Some ALD heterozygotes have varying degrees of neurologic disease, usually spastic paraparesis. Carrier detection is possible by determination of VLCFA concentrations in plasma and cultured skin fibroblasts. Any woman at risk in an ALD kinship, and who demonstrates a spastic paraparesis, should be assumed to be a carrier until biochemical testing is obtained. To determine whether a woman is an ALD carrier, measurement of plasma VLCFA levels should be done initially. If this gives normal or equivocal results, VLCFA levels should be measured in cultured skin fibroblasts.
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Slowly progressive AMN symptoms occur in approximately 65% of heterozygous women by age 60 due to inactivation of the non-mutated X chromosome and mosaic expression of X-linked genes in neural cells.
“Although ALD is an X-linked disease, slowly progressive AMN symptoms occur in ~65% of heterozygous women by the age of 60 years [31,47,59,60] due to the inactivation of the non-mutated X chromosome and the mosaic expression of X-linked genes in neural cells [60,61,62,63].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [59]
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Huffnagel, I. C., van de Beek, M.-C., Showers, A. L., Orsini, J. J., Klouwer, F. C. C., Dijkstra, I. M. E., Schielen, P. C., van Lenthe, H., Wanders, R. J. A., Vaz, F. M., et al. (2017) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2017.10.012 · Cited by 71 · 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
- O'Neill, B. P., Moser, H. W., Saxena, K. M., & Marmion, L. C.
- Affiliations
- From the Department of Neurology, Mayo Clinic and Foundation, Rochester, MN (Dr. O'Neill); the Department of Neurology, Johns Hopkins Medical Institutions and John F. Kennedy Institute, Baltimore, MD (Dr. Moser); the Department of Pediatrics and Community Medicine, University of Minnesota Medical Center, and United Children's Hospital, St. Paul, MN (Dr. Saxena); and the Department of Neurology, University of Michigan Medical Center, Ann Arbor, MI (Dr. Marmion).
- Mayo Clinic (US)
- Venue
- Neurology
- Published
- 1984-06
- Volume
- 34
- Issue
- 6
- Pages
- 798-798
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2161968043
- Cited by
- 56
- References
- 0
- Citations by year
- 2025: 3 · 2023: 2 · 2021: 1 · 2020: 1 · 2019: 1 · 2017: 3 · 2016: 3 · 2015: 1 · 2014: 1 · 2013: 2 · 2012: 3
- FWCI
- 3.34
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- adrenoleukodystrophy, heterozygous carriers, very long chain fatty acids, spastic paraparesis, peripheral neuropathy, carrier screening
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Adult, Aged, Diffuse Cerebral Sclerosis of Schilder, Child, Child, Preschool, Fatty Acids, Female, Genetic Carrier Screening, Humans, Middle Aged, Pedigree
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