ArticleAJNR. American journal of neuroradiology
Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
Article in AJNR. American journal of neuroradiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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The trial behind it
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Who cites it
25 citing papers in PubMed, 90 citations in OpenAlex.
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- Improved AAV9-based gene therapy design forMolecular therapy. Methods & clinical development · 2025Article
- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.Biomedicines · 2025Review
- Distinct Imaging Markers of Leigh's Disease Linked to SURF1 Mutation: A Pediatric Case Study.The American journal of case reports · 2024Article
- Advancing the neuroimaging diagnosis and understanding of mitochondrial disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Adeno-associated viral vector serotype 9-based gene replacement therapy forMolecular therapy. Methods & clinical development · 2021Article
- Clinical Diagnosis and Treatment of Leigh Syndrome Based onAntioxidants (Basel, Switzerland) · 2021Review
- Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia.Case reports in medicine · 2021Article
- Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.Intractable & rare diseases research · 2019Article
- Cerebral imaging in paediatric mitochondrial disorders.The neuroradiology journal · 2018Review
- Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.JIMD reports · 2017Article
- The neuroimaging of Leigh syndrome: case series and review of the literature.Pediatric radiology · 2016Review
- Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).Neuroradiology · 2015Review
- The genetics of Leigh syndrome and its implications for clinical practice and risk management.The application of clinical genetics · 2014Review
- SURF1 deficiency: a multi-centre natural history study.Orphanet journal of rare diseases · 2013Article
- OXPHOS mutations and neurodegeneration.The EMBO journal · 2013Review
- Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.Journal of neurology · 2013Review
- A rare mitochondrial disorder: Leigh syndrome--a case report.Italian journal of pediatrics · 2010Article
- The dentate nucleus in children: normal development and patterns of disease.Pediatric radiology · 2010Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the putamina, interpeduncular nucleus, and pallido-cortical-nigro-cortical tracts in one. MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations.
Indexed as
Identifiers
12812953PMC8148997W2182135252What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.