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.
“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]
Gadolinium extravasation, a hallmark of neuroinflammation and blood-brain barrier breach, can occur early when demyelinating lesions are still restricted to the corpus callosum or pyramidal tracts but is often seen later, once lesions have extended.
“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]
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- 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 › Physiology › 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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