Invited article: an MRI-based approach to the diagnosis of white matter disorders
Open accessAbstract
Background There are many different white matter disorders, both inherited and acquired, and consequently the diagnostic process is difficult. Establishing a specific diagnosis is often delayed at great emotional and financial costs. The pattern of brain structures involved, as visualized by MRI, has proven to often have a high diagnostic specificity. Methods We developed a comprehensive practical algorithm that relies mainly on the characteristics of brain MRI. Results The initial decision point defines a hypomyelination pattern, in which the cerebral white matter is hyperintense (normal), isointense, or slightly hypointense relative to the cortex on T1-weighted images, vs other pathologies with more prominent hypointensity of the cerebral white matter on T1-weighted images. In all types of pathology, the affected white matter is hyperintense on T2-weighted images, but, as a rule, the T2 hyperintensity is less marked in hypomyelination than in other pathologies. Some hypomyelinating disorders are typically associated with peripheral nerve involvement, while others are not. Lesions in patients with pathologies other than hypomyelination can be either confluent or isolated and multifocal. Among the diseases with confluent lesions, the distribution of the abnormalities is of high diagnostic value. Additional MRI features, such as white matter rarefaction, the presence of cysts, contrast enhancement, and the presence of calcifications, further narrow the diagnostic possibilities…
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Mutation in the POLR3B gene is associated with hypomyelinating leukodystrophy.
“Moreover, a mutation in the POLR3B gene is associated with hypomyelinating leukodystrophy which is characterized by a deficiency in myelin deposition of the white matter of the brain (Schiffmann and van der Knaap, 2009; Daoud et al., 2013).”
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Leukodystrophy imaging: Insights for diagnostic dilemmas.
Thakkar, R. N., Patel, D., Kioutchoukova, I. P., Al-Bahou, R., Reddy, P., Foster, D. T., & Lucke-Wold, B. (2024) · Medical Sciences · doi:10.3390/medsci12010007 · Cited by 17 · see citing works
- Authors
- Schiffmann, R., & van der Knaap, M. S.
- Affiliations
- Baylor University Medical Center (US)
- From the Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Department of Child Neurology (M.S.v.d.K.), VU University Medical Center, Amsterdam, The Netherlands.
- ORCID
- Schiffmann, Raphael
- Venue
- Neurology
- Published
- 2009-02-24
- Volume
- 72
- Issue
- 8
- Pages
- 750-759
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC2677542
- OpenAlex
- W2108583379
- Cited by
- 553
- References
- 0
- Citations by year
- 2026: 18 · 2025: 18 · 2024: 45 · 2023: 31 · 2022: 23 · 2021: 35 · 2020: 41 · 2019: 41 · 2018: 27 · 2017: 40 · 2016: 33 · 2015: 41 · 2014: 36 · 2013: 29 · 2012: 43
- FWCI
- 19.84
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Neurology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- Funders
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Neurology › Cerebrovascular and genetic disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Keywords
- white matter disease, hypomyelination, white matter hyperintensities, T1-weighted imaging, T2-weighted imaging, white matter rarefaction, peripheral nerve involvement, diagnostic algorithm, decision tree, leukodystrophy, cysts, calcification, contrast enhancement
- MeSH terms
- Algorithms, Brain, Brain Diseases, Cerebral Cortex, Decision Trees, Demyelinating Diseases, Diagnosis, Differential, Humans, Magnetic Resonance Imaging
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