SynthesisAJNR. American journal of neuroradiology2012
Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data.
Synthesis in AJNR. American journal of neuroradiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 70 citations in OpenAlex.
- l-2-Hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression.The Journal of clinical investigation · 2026Article
- Subtle clinical and radiological findings as potential indicators of CNS tumors in L-2-hydroxyglutaric aciduria: a literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- L-2-Hydroxyglutaric Aciduria Complicated by Cerebral Neoplasm.Movement disorders clinical practice · 2025Article
- Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.Cell death and differentiation · 2025Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Chorea in Hereditary Leukodystrophies - Overview of Two Cases.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- Precision medicine in AML: overcoming resistance.International journal of hematology · 2024Review
- Malignant glioma in L-2-Hydroxyglutaric Aciduria: thorough molecular characterization of a case and literature review.Free neuropathology · 2024Article
- Deep Brain Stimulation of the Globus Pallidus Internus in a Child with Refractory Dystonia due to L2-Hydroxyglutaric Aciduria.Stereotactic and functional neurosurgery · 2024Article
- L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.Molecular genetics and metabolism reports · 2023Article
- Metabolic adaptations in cancers expressing isocitrate dehydrogenase mutations.Cell reports. Medicine · 2021Review
- Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria.BMJ case reports · 2021Article
- The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults.Movement disorders clinical practice · 2020Article
- Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria.Turk pediatri arsivi · 2020Article
- Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria.Radiology case reports · 2020Article
- A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria.Balkan journal of medical genetics : BJMG · 2019Article
- Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis.Metabolic brain disease · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
summaryIncreasing evidence suggests that patients with L2-HGA have a predisposition to cerebral neoplasms. This may be related to the pathologic accumulation of L2-HG because high amounts of 2-HG have been found in brain neoplasms that have IDH1 mutations. Our experience, on the basis of 11 previously unreported cases of L2-HGA, 3 of which developed cerebral neoplasms during the course of the disease, also supports an association between L2-HGA and cerebral neoplasms. We conducted a meta-analysis of published data, and we identified 295 patients (including our 11 patients) with L2-HGA. In 14 patients, the metabolic disorder was associated with cerebral neoplasms, suggesting an approximately 5% prevalence rate of CNS neoplasms in patients with L2-HGA; nonetheless, it may still be an underestimate. L2-HGA is an important disease "model" that provides further evidence to support the recently proposed pathogenetic role of 2-HG in the development of cerebral neoplasms.
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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.