Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes
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The few studied monozygotic twins with X-ALD showed less discordant phenotypes.
“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 [109]
Cites
Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins
Sobue, G., Ueno‐Natsukari, I., Okamoto, H., Connell, T. A., Aizawa, I., Mizoguchi, K., Honma, M., Ishikawa, G., Mitsuma, T., & Natsukari, N. (1994) · Annals of Neurology · doi:10.1002/ana.410360617 · Cited by 56 · see citing works
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X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
Kemp, S., Berger, J., & Aubourg, P. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.03.012 · Cited by 283 · 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
Peroxisomes in brain development and function
Berger, J., Dorninger, F., Forss-Petter, S., & Kunze, M. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.12.005 · Cited by 194 · see citing works
“This is also supported by the development of different clinical phenotypes in monozygotic twins [135,136] and the observation that moderate head trauma can initiate cerebral demyelination in AMN patients [137,138].”
Resultvan Engen, C. E., Ofman, R., Dijkstra, I. M. E., van Goethem, T. J., Verheij, E., Varin, J., Vidaud, M., Wanders, R. J. A., Aubourg, P., Kemp, S., et al. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2016.07.006 · Cited by 26 · 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
- Di Rocco, M., Doria‐Lamba, L., & Caruso, U.
- Affiliations
- Istituto Giannina Gaslini (IT)
- University of Genoa (IT)
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2001-08-31
- Volume
- 50
- Issue
- 3
- Pages
- 424-424
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2038506810
- Cited by
- 45
- References
- 1
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 11 · 2023: 1 · 2022: 2 · 2021: 3 · 2020: 2 · 2019: 2 · 2018: 3 · 2017: 1 · 2016: 4 · 2015: 1 · 2014: 1 · 2013: 2 · 2012: 2
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- X-linked adrenoleukodystrophy, monozygotic twins, phenotypic variability, genotype-phenotype correlation, X chromosome
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Humans, Male, Phenotype, Twins, Monozygotic
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