ArticleAJNR. American journal of neuroradiology2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies.
Article in AJNR. American journal of neuroradiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 51 citations in OpenAlex.
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- Novel NDUFV1 variant in progressive cavitating leukodystrophy with microcephaly: a case report.BMC pediatrics · 2026Article
- Imaging patterns of paediatric CNS mitochondrial disorders.Neuroradiology · 2026Review
- Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.Neurology · 2025Review
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
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- Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy.Internal medicine (Tokyo, Japan) · 2025Article
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- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.Developmental medicine and child neurology · 2025Article
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Authors and funding
7 authors at 6 institutions in 3 countries.
Funding
Abstract
background and purposeAchieving a specific diagnosis in leukodystrophies is often difficult due to clinical and genetic heterogeneity. Mitochondrial defects cause 5%-10% of leukodystrophies. Our objective was to define MR imaging features commonly shared by mitochondrial leukodystrophies and to distinguish MR imaging patterns related to specific genetic defects. MATERIALS AND
methodsOne hundred thirty-two patients with a mitochondrial leukodystrophy with known genetic defects were identified in the data base of the Amsterdam Leukodystrophy Center. Numerous anatomic structures were systematically assessed on brain MR imaging. Additionally, lesion characteristics were scored. Statistical group analysis was performed for 57 MR imaging features by hierarchic testing on clustered genetic subgroups.
resultsMR imaging features indicative of mitochondrial disease that were frequently found included white matter rarefaction (
conclusionsIn a large group of patients with a mitochondrial leukodystrophy, general MR imaging features suggestive of mitochondrial disease were found. Additionally, we identified several MR imaging patterns correlating with specific genotypes. Recognition of these patterns facilitates the diagnosis in future patients.
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