ReviewPediatric radiology2016
The neuroimaging of Leigh syndrome: case series and review of the literature.
Review in Pediatric radiology, 2016. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 82 citations in OpenAlex.
- Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy.Internal medicine (Tokyo, Japan) · 2025Article
- Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.Molecular genetics & genomic medicine · 2025Review
- Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.Biomedicines · 2025Review
- BiallelicBrain communications · 2025Article
- Review
- MRI Evolution of a Patient with Viral Tick-Borne Encephalitis and Polymorphic Seizures.Diagnostics (Basel, Switzerland) · 2022Article
- Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.Neurology international · 2022Review
- On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.Current opinion in neurobiology · 2022Review
- m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.Cold Spring Harbor molecular case studies · 2022Article
- Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.Orphanet journal of rare diseases · 2021Article
- Neuromitochondrial Disorders : Genomic Basis and an Algorithmic Approach to Imaging Diagnostics.Clinical neuroradiology · 2021Review
- Late-onset Leigh syndrome without delayed development in China: A case report.World journal of clinical cases · 2021Article
- Dental Pulp-Derived Mesenchymal Stem Cells for Modeling Genetic Disorders.International journal of molecular sciences · 2021Review
- Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients WithFrontiers in pharmacology · 2021Article
- MELAS or Leigh syndrome, that's the question.Pediatric endocrinology, diabetes, and metabolism · 2021Article
- Leigh Syndrome Due toGenes · 2020Article
- [Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2020Article
- NovelGenes · 2020Article
- Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/α-ketoglutarate metabolism in mitochondrial disease.Molecular genetics and metabolism · 2020Article
- Cardiovascular Manifestations of Mitochondrial Disease.Biology · 2019Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers.
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