ArticleCerebrospinal fluid research2010
Choroid plexus failure in the Kearns-Sayre syndrome.
Article in Cerebrospinal fluid research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.Journal of inherited metabolic disease · 2018Pooled it
- Neuroimaging in cerebral folate deficiencies.Pediatric radiology · 2026Review
- Novel localization of folate transport systems in the murine central nervous system.Fluids and barriers of the CNS · 2022Article
- Kearns-Sayre syndrome with a novel large-scale deletion: a case report.BMC ophthalmology · 2022Article
- Prevalence and Incidence of Microhemorrhages in Adolescent Football Players.AJNR. American journal of neuroradiology · 2020Article
- Comparative transcriptomics of choroid plexus in Alzheimer's disease, frontotemporal dementia and Huntington's disease: implications for CSF homeostasis.Fluids and barriers of the CNS · 2018Article
- Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.Orphanet journal of rare diseases · 2014Article
- Mitochondrial genome changes and neurodegenerative diseases.Biochimica et biophysica acta · 2014Review
- Development of pharmacological strategies for mitochondrial disorders.British journal of pharmacology · 2014Review
- Clonally expanded mitochondrial DNA deletions within the choroid plexus in multiple sclerosis.Acta neuropathologica · 2012Article
- A molecular characterization of the choroid plexus and stress-induced gene regulation.Translational psychiatry · 2012Article
- Traumatic brain injury and recovery mechanisms: peptide modulation of periventricular neurogenic regions by the choroid plexus-CSF nexus.Journal of neural transmission (Vienna, Austria : 1996) · 2011Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Kearns-Sayre syndrome is a mitochondrial disorder (generally due to mitochondrial DNA deletions) that causes ophthalmoplegia, retinopathy, ataxia and brain abnormalities such as leukoencephalopathy. In this syndrome, the choroid plexus epithelial cells, unlike brain cells, are greatly enlarged and granular, consistent with their inability to adequately transport folate from blood into cerebrospinal fluid (CSF), and homovanillic acid (a dopamine metabolite) from CSF into blood. This inability to transport folates from blood into CSF (and brain) adequately, causes cerebral folate deficiency that can be partially reversed by very high doses of reduced folates. The Kearns-Sayre syndrome is a disease that interferes with key choroid plexus functions and is a cause of generalized choroid plexus failure.
Identifiers
What 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.