Arrested cerebral adrenoleukodystrophy: A clinical and proton magnetic resonance spectroscopy study in three patients
Abstract
We report three unrelated boys with X-linked adrenoleukodystrophy with onset of typical neurological symptoms of cerebral adrenoleukodystrophy between the age of 7 and 11 years. In contrast to the expected rapid progression, these patients showed an apparent arrest of initial neurological deterioration for subsequent periods of 5-12 years. Repeated neuroimaging revealed no progression of demyelination. Despite regional variability of demyelination, proton magnetic resonance spectroscopy revealed a specific metabolic pattern in all patients, with only moderate reduction of N-acetylaspartate, normal or reduced choline-containing compounds, normal or enhanced myo-inositol and no detectable lactate, which differs from findings in progressive cerebral adrenoleukodystrophy which usually exhibits a severe reduction of N-acetylaspartate and marked increases of choline-containing compounds, myo-inositol, and lactate. The ability to identify this newly described subgroup of patients with cerebral adrenoleukodystrophy is important for medical advice and planning of therapy.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In arrested cALD, MRI is stabilized and gadolinium enhancement disappears for a decade or more.
“In the few cases of “arrested cALD”, MRI is stabilized and gadolinium enhancement disappears for a decade or more [95,96].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [96]
Cites
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., & Aubourg, P. (1993) · Nature · doi:10.1038/361726a0 · Cited by 1,202 · see citing works
A Two-Year Trial of Oleic and Erucic Acids (“Lorenzo's Oil”) as Treatment for Adrenomyeloneuropathy
Aubourg, P., Adamsbaum, C., Lavallard-Rousseau, M.-C., Rocchiccioli, F., Cartier, N., Jambaque, I., Jakobezak, C., Lemaitre, A., Boureau, F., Wolf, C., et al. (1993) · New England Journal of Medicine · doi:10.1056/nejm199309093291101 · Cited by 242 · see citing works
Genomic organization of the adrenoleukodystrophy gene
Sarde, C.-O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., & Mandel, J.-L. (1994) · Genomics · doi:10.1006/geno.1994.1339 · Cited by 82 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
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
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy
Loes, D. J., Fatemi, A., Melhem, E. R., Gupte, N., Bezman, L., Moser, H. W., & Raymond, G. V. (2003) · Neurology · doi:10.1212/01.wnl.0000079050.91337.83 · Cited by 268 · see citing works
Pathophysiology of X-linked adrenoleukodystrophy
Berger, J., Forss-Petter, S., & Eichler, F. S. (2014) · Biochimie · doi:10.1016/j.biochi.2013.11.023 · Cited by 238 · see citing works
ABCD1 dysfunction alters white matter microvascular perfusion
Lauer, A., Da, X., Hansen, M. B., Boulouis, G., Ou, Y., Cai, X., Liberato Celso Pedrotti, A., Kalpathy-Cramer, J., Caruso, P., Hayden, D. L., et al. (2017) · Brain · doi:10.1093/brain/awx262 · Cited by 48 · 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
- Korenke, G. C., Pouwels, P. J. W., Frahm, J., Hunneman, D. H., Stoeckler, S., Krasemann, E., Jost, W., & Hanefeld, F.
- Affiliations
- University of Göttingen (DE)
- Max Planck Society (DE)
- Corresponding author
- Korenke, G.Christoph
- Venue
- Pediatric Neurology
- Publisher
- Elsevier BV
- Published
- 1996-09
- Volume
- 15
- Issue
- 2
- Pages
- 103-107
- ISSN
- 0887-8994 (ISSN-L)
- OpenAlex
- W1976290423
- Cited by
- 39
- References
- 3
- Citations by year
- 2025: 3 · 2024: 1 · 2022: 2 · 2021: 3 · 2020: 4 · 2019: 3 · 2017: 1 · 2016: 3 · 2015: 1 · 2013: 1 · 2012: 1
- FWCI
- 1.02
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Pediatric Neurology (publishedVersion)
- PubMed (publishedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- cerebral adrenoleukodystrophy, X-linked adrenoleukodystrophy, demyelination, N-acetylaspartate, choline-containing compounds, myo-inositol, lactate, 1H NMR, pediatric patients
- MeSH terms
- Aspartic Acid, Brain, Brain Diseases, Metabolic, Child, Choline, Demyelinating Diseases, Female, Humans, Inositol, Male, Magnetic Resonance Spectroscopy, Sex Chromosome Aberrations, X Chromosome, Peroxisomal Disorders, Lactic Acid
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
