ABCD1 dysfunction alters white matter microvascular perfusion
Open accessAbstract
Cerebral X-linked adrenoleukodystrophy is a devastating neurodegenerative disorder caused by mutations in the ABCD1 gene, which lead to a rapidly progressive cerebral inflammatory demyelination in up to 60% of affected males. Selective brain endothelial dysfunction and increased permeability of the blood-brain barrier suggest that white matter microvascular dysfunction contributes to the conversion to cerebral disease. Applying a vascular model to conventional dynamic susceptibility contrast magnetic resonance perfusion imaging, we demonstrate that lack of ABCD1 function causes increased capillary flow heterogeneity in asymptomatic hemizygotes predominantly in the white matter regions and developmental stages with the highest probability for conversion to cerebral disease. In subjects with ongoing inflammatory demyelination we observed a sequence of increased capillary flow heterogeneity followed by blood-brain barrier permeability changes in the perilesional white matter, which predicts lesion progression. These white matter microvascular alterations normalize within 1 year after treatment with haematopoietic stem cell transplantation. For the first time in vivo, our studies unveil a model to assess how ABCD1 alters white matter microvascular function and explores its potential as an earlier biomarker for monitoring disease progression and response to treatment.
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Brain perfusion studies in symptomatic and asymptomatic cALD patients revealed that microvascular physiology abnormalities preceded MRI-detected white matter changes.
“Brain perfusion studies in symptomatic and asymptomatic cALD patients revealed that microvascular physiology abnormalities preceded MRI-detected white matter changes [418].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [418]
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Peroxisomal ABCD1 deficiency in mice drives Th1 bias through 25-HC–LXR signaling in CD4+ T cells
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Additional file 1 of Easily misdiagnosed X-linked adrenoleukodystrophy
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Self-citation
- Authors
- 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., Rost, N., Mouridsen, K., Eichler, F. S., Rosen, B., & Musolino, P. L.
- Affiliations
- Goethe University Frankfurt (DE)
- Athinoula A. Martinos Center for Biomedical Imaging (US)
- Aarhus University (DK)
- Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
- Boston Children's Hospital (US)
- Department of Radiology, Massachusetts General Hospital, Boston, MA, USA
- Athinoula A. Martinos Center for Biomedical Imaging, Charlestown, MA, USA
- Massachusetts General Hospital (US)
- Corresponding author
- Musolino, Patricia L
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2017-11-09
- Volume
- 140
- Issue
- 12
- Pages
- 3139-3152
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- PMC
- PMC5841142
- OpenAlex
- W2767376202
- Cited by
- 48
- References
- 60
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 15 · 2023: 3 · 2022: 4 · 2021: 4 · 2020: 3 · 2019: 7 · 2018: 2
- FWCI
- 2.73
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- Brain (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (K12NS066225 and K08NS52550)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Neurology › Barrier Structure and Function Studies
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Advanced MRI Techniques and Applications
- Keywords
- ABCD1, X-linked adrenoleukodystrophy, blood-brain barrier permeability, inflammatory demyelination, hematopoietic stem cell transplantation, disease progression biomarkers, dynamic susceptibility contrast MRI
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adolescent, Adrenoleukodystrophy, Blood-Brain Barrier, Cerebrovascular Circulation, Child, Child, Preschool, Humans, Magnetic Resonance Imaging, Male, Microcirculation, Mutation, Permeability, Case-Control Studies, Hematopoietic Stem Cell Transplantation, Magnetic Resonance Angiography, Young Adult, Hemizygote, Asymptomatic Diseases, White Matter
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