The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy
Abstract
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) has variants with widely different outcomes, hampering clinical counseling and evaluation of therapies. OBJECTIVE: To evaluate the degree to which MRI patterns can predict lesion progression. METHODS: Two hundred six boys and men with cerebral X-ALD (median age 12.2 years, mean age 18.5 years, age range 1.7 to 73.8 years) were studied. In 140 individuals, follow-up MRI were available. Data after bone marrow transplantation (BMT) were excluded. The patterns of MRI abnormalities were subdivided into five groups based on the anatomic location of the initial T2 signal hyperintensity (pattern 1: parieto-occipital white matter, pattern 2: frontal white matter, pattern 3: corticospinal tract, pattern 4: cerebellar white matter, pattern 5: concomitant parieto-occipital and frontal white matter). The X-ALD MRI Severity Scale, a 34-point scale previously described, was used in the analysis. RESULTS: Pattern 1 patients had rapid progression if contrast enhancement was present and if the MRI abnormality manifested at an early age. The latter was also true for pattern 2 patients. Based on these variables, predictive formulas were constructed for these two patterns using multiple regressions. MRI progression was much slower in pattern 3 and 4 patients, whereas in the few pattern 5 patients, it was more rapid than in any other of the patterns. Patterns 1 and 5 occurred mainly in childhood, patterns 2 and 4 in adolescence, and pattern 3 in adults. CONCLUSIONS: MRI progression in X-ALD depends on patient age, initial MRI Severity Scale score, and anatomic location of the lesion. When used in combination, these data aid the prediction of disease course and the selection of patients for BMT.
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“At more advanced stages, typical confluent and symmetrical areas of T2 hyperintensity reflect demyelination in the splenium of the corpus callosum, parieto-occipital or frontal white matter, or pyramidal tracts within the internal capsules, pons, and brainstem.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [94]
In the citing paper
“Gadolinium extravasation, a hallmark of neuroinflammation and blood–brain barrier (BBB) breach, can occur early when demyelinating lesions are still restricted to the corpus callosum or pyramidal tracts but is often seen later, once the demyelinating lesions have extended [31,93,94].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [94]
Citations
Cites
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Moser, H. W., Mahmood, A., & Raymond, G. V. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0421 · Cited by 663
Self-citationShapiro, 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
Self-citationAdrenoleukodystrophy: a scoring method for brain MR observations.
(1994) · PubMed Central · Cited by 321
Self-citationKemp, 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 321
Self-citationThe gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
Mosser, J., Lutz, Y., Stoeckel, M. E., Sarde, C. O., Kretz, C., Douar, A. M., Lopez, J., Aubourg, P., & Mandel, J. L. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.2.265 · Cited by 281
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Moser, H. W., Loes, D. J., Melhem, E. R., Raymond, G. V., Bezman, L., Cox, C. S., & Lu, S.-E. (2000) · Neuropediatrics · doi:10.1055/s-2000-9236 · Cited by 210
Self-citationAdrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy
Powers, J. M., DeCiero, D. P., Ito, M., Moser, A. B., & Moser, H. W. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.2.89 · Cited by 204
Self-citation
Research works printed but not linked: 1
- Aubourg P. X-linked adrenoleukodystrophy. In: Moser HW ed. Handbook of clinical neurology. New York: Elsevier Science 1996: 447–472.
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Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11
Anomalies cérébrales subtiles de l’Adrénomyéloneuropathie
Teriitehau, C., Adamsbaum, C., Merzoug, V., Kalifa, G., Tourbah, A., & Aubourg, P. (2007) · Journal de Radiologie · doi:10.1016/s0221-0363(07)89902-1 · Cited by 10
Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1
Zheng, F., Lin, Z., Hu, Y., Shi, X., Zhao, Q., & Lin, Z. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12020473 · Cited by 1
Metadata
- Authors
- Loes, D. J., Fatemi, A., Melhem, E. R., Gupte, N., Bezman, L., Moser, H. W., & Raymond, G. V.
- Affiliations
- Kennedy Krieger Institute (US)
- Venue
- Neurology
- Published
- 2003-08-12
- Volume
- 61
- Issue
- 3
- Pages
- 369-374
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2151567647
- Cited by
- 268
- References
- 25
- Citations by year
- 2026: 11 · 2025: 16 · 2024: 12 · 2023: 13 · 2022: 17 · 2021: 15 · 2020: 14 · 2019: 13 · 2018: 15 · 2017: 17 · 2016: 14 · 2015: 9 · 2014: 13 · 2013: 9 · 2012: 13
- FWCI
- 4.51
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. National Library of Medicine (LM9-3537)
- National Center for Research Resources (M0RR11)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-10981, P01HD010981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- X-linked adrenoleukodystrophy, cerebral adrenoleukodystrophy, disease progression prediction, T2 hyperintensity, white matter lesions, corticospinal tract, cerebellar white matter, patient age
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Adult, Age Factors, Aged, Child, Child, Preschool, Drug Combinations, Erucic Acids, Follow-Up Studies, Humans, Image Processing, Computer-Assisted, Infant, Magnetic Resonance Imaging, Male, Middle Aged, Predictive Value of Tests, Prognosis, Severity of Illness Index, Triolein, Linear Models, Disease Progression
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