Leukodystrophy imaging: Insights for diagnostic dilemmas.
Open accessAbstract
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These diseases are characterized as cerebral lesions with characteristic demyelinating patterns which can be used as differentiating tools. In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in differentiation, emerging diagnostics, and a follow-up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, Pelizaeus-Merzbacher disease, Alexander's disease, Canavan disease, and Aicardi-Goutières Syndrome.
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In X-ALD, white matter lesions typically extend from parieto-occipital to frontal regions.
“In X-ALD, white matter lesions typically extend from parieto-occipital to frontal regions (Thakkar et al., 2024), while in RDLKD, current MRI data do not suggest a consistent regional pattern.”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Thakkar et al., 2024
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Chaloulos-Iakovidis, P., Hakim, A., Stork, L., Stadelmann, C., Attila, K., Chan, A., Sophie, D. B., Anke, S., Hoepner, R., & Hammer, H. N. (2025) · Journal of Central Nervous System Disease · doi:10.1177/11795735251340051 · Cited by 5 · see citing works
Pelizaeus-Merzbacher Disease as a Cause of Early-Onset Developmental Delay: A Case Report
Galea, M., Cocker, M., Soler, D., & Bezzina, E. (2025) · Cureus · doi:10.7759/cureus.82308 · Cited by 1 · see citing works
Seraji, Z., Rashidi, S., Heidari, M., & Ashrafi, M. R. (2025) · Biomedical Physics & Engineering Express · doi:10.1088/2057-1976/ae2336 · Cited by 1 · see citing works
Shakour, R., Tascione, O. F., Carberry, N., & Flores-Gonzalez, R. (2024) · Journal of Medical Cases · doi:10.14740/jmc4336 · Cited by 1 · see citing works
Multiple sclerosis mimics that you do not want to miss in the context of 2024 McDonald criteria
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Dharni, T., Aggarwal, S., Sodhi, M. K., Oberoi, V., Meena, P., Ali, A., Patidar, N., & Khanna, R. (2024) · IP Indian Journal of Neurosciences · doi:10.18231/j.ijn.2024.037
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Clinical and Genetic Characteristics of Children with Pelizaeus-Merzbacher Disease
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- Authors
- Thakkar, R. N., Patel, D., Kioutchoukova, I. P., Al-Bahou, R., Reddy, P., Foster, D. T., & Lucke-Wold, B.
- Affiliations
- University of Florida (US)
- College of Medicine, University of Florida, Gainesville, FL 32610, USA
- Florida Atlantic University (US)
- Florida International University (US)
- University of Florida Health (US)
- Corresponding author
- Lucke-Wold, Brandon
- Venue
- Medical Sciences
- Publisher
- MDPI AG
- Published
- 2024-01-25
- Volume
- 12
- Issue
- 1
- Pages
- 7
- ISSN
- 2076-3271 (ISSN-L)
- PMC
- PMC10885080
- OpenAlex
- W4391216359
- Cited by
- 17
- References
- 81
- Citations by year
- 2026: 7 · 2025: 5 · 2024: 5
- FWCI
- 0.94
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Medical Sciences (publishedVersion, cc-by)
- Preprints.org (acceptedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Keywords
- leukodystrophy, demyelinating disease, MRI findings, diagnostic imaging, X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe disease, Pelizaeus-Merzbacher disease, Alexander disease, Canavan disease, Aicardi-Goutières syndrome, genetic diagnosis
- MeSH terms
- Adrenoleukodystrophy, Humans, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Neurodegenerative Diseases, Pelizaeus-Merzbacher Disease
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