X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil
Abstract
Unlabelled X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only. Objective To describe the clinical course of affected male patients from South Brazil between 1993 and 2007. Methods Affected male patients and their maternal lineages were studied from a clinical, neurological and biochemical standpoint. Results Eighty-three male patients from 30 families were biochemically evaluated: 51 were affected. 27/51 (54%) presented the cerebral form; 11/51 had AMN (22%); 5 had Addison-only (10%), and 8 (16%) were asymptomatic. Between 2002 and 2006, the minimal incidence was 1:35,000 males in our State (South Brazil). Forty-three affected individuals were followed for 5.4+/-3.7 years. Of 10 boys detected at early stages, three developed CALD. These three boys and another five CALD at baseline were referred to hematopoietic stem cell transplantation. Seven transplants were carried out, 5 with good clinical evolution after 2.2 years post-transplant. The non-transplanted case was later defined as a stable cerebral form. Discussion Among the present families, the observed cases were comparable to the 50% expected by Mendelian segregation. Based on the natural history, the number of cases that developed CALD was similar to the expected. Transplants were successful in 70% of cases. The occurrence of a stable cerebral form pointed to…
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Devastating childhood cALD and late adulthood AMN may co-exist within the same family.
“Devastating childhood cALD and late adulthood AMN may co-exist within the same family [103,104,105,106], whereas the few studied monozygotic twins showed less discordant phenotypes [107,108,109,110].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [106]
Within individual kindreds, phenotypes of the entire clinical spectrum of X-ALD have been described.
“Secondly, within individual kindreds, phenotypes of the entire clinical spectrum of X-ALD have been described.15,32,33”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [15]
Cites
Moser, H. W., Mahmood, A., & Raymond, G. V. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0421 · Cited by 663 · see citing works
Shapiro, E., Krivit, W., Lockman, L., Jambaqué, I., Peters, C., Cowan, M., Harris, R., Blanche, S., Bordigoni, P., Loes, D., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02629-5 · Cited by 329 · see citing works
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Bezman, L., Moser, A. B., Raymond, G. V., Rinaldo, P., Watkins, P. A., Smith, K. D., Kass, N. E., & Moser, H. W. (2001) · Annals of Neurology · doi:10.1002/ana.101 · Cited by 324 · see citing works
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Berger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · 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
- Jardim, L. B., da Silva, A. C. F., Blank, D., Villanueva, M. M., Renck, L., La Bella Costa, M., Vargas, C. R., Deon, M., Coelho, D. L. M., Vedolin, L., de Castro, C. G., Gregianin, L., Bonfim, C., & Giugliani, R.
- Affiliations
- Universidade Federal do Rio Grande do Sul (BR)
- Hospital de Clínicas de Porto Alegre (BR)
- Hospital Moinhos de Vento (BR)
- Hospital de Clínicas Universidade Federal do Paraná (BR)
- Corresponding author
- Jardim, Laura Bannach
- ORCID
- Venue
- Brain and Development
- Publisher
- Elsevier BV
- Published
- 2010-03
- Volume
- 32
- Issue
- 3
- Pages
- 180-190
- ISSN
- 0387-7604 (ISSN-L)
- OpenAlex
- W2025955863
- Cited by
- 24
- References
- 3
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 1 · 2018: 2 · 2017: 3 · 2016: 3 · 2015: 4 · 2013: 1 · 2012: 1
- FWCI
- 0.85
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain and Development (publishedVersion)
- PubMed (publishedVersion)
- 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 › Neurology › Neurological diseases and metabolism
- Keywords
- X-linked adrenoleukodystrophy, very long chain fatty acids, cerebral adrenoleukodystrophy, myeloneuropathy, Addison's disease, clinical course, incidence, hematopoietic stem cell transplantation, natural history (disease), disease markers, southern Brazil
- MeSH terms
- Adrenoleukodystrophy, Brazil, Chromatography, Gas, Coenzyme A Ligases, Family Health, Fatty Acids, Humans, Longitudinal Studies, Male, Retrospective Studies, Severity of Illness Index, Hematopoietic Stem Cell Transplantation, Disease Progression, Statistics, Nonparametric, Chromosomes, Human, X
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