ReviewArchives of neurology2012
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
Review in Archives of neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 115 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
115 citing papers in PubMed, 2 syntheses or guidelines pooled it, 213 citations in OpenAlex.
- Efficacy and Safety of Coenzyme Q10 Supplementation in the Treatment of Polycystic Ovary Syndrome: a Systematic Review and Meta-analysis.Reproductive sciences (Thousand Oaks, Calif.) · 2023Pooled it
- The efficacy of coenzyme QJournal of cellular and molecular medicine · 2022Pooled it
- Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease.Disease models & mechanisms · 2026Review
- The Drp1-CoQ10-Coa6-ETC axis represents a therapeutic potential for working memory impairment caused by neuronal mitochondrial dysfunction.Translational neurodegeneration · 2026Article
- Case Report: Pediatric nephrology-expanding the genotypic spectrum ofFrontiers in medicine · 2026Article
- Severe Neurological Presentation in Siblings WithJIMD reports · 2025Article
- Shaky Beginnings: A Novel CoQ8A Mutation in Adolescent-Onset Cerebellar Ataxia with Head Tremors.Annals of Indian Academy of Neurology · 2025Article
- Article
- The treatment of primary CoQ deficiency requires the targeting of multiple pathogenic mechanisms.Communications medicine · 2025Article
- HPDL Variant Type Correlates With Clinical Disease Onset and Severity.Annals of clinical and translational neurology · 2025Observational
- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- Success of Coenzyme Q10 in Treating Steroid-Resistant Nephrotic Syndrome in Jordan: A Case Series.Cureus · 2025Article
- Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease.Nature immunology · 2024Article
- Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.American journal of human genetics · 2024Article
- Understanding coenzyme Q.Physiological reviews · 2024Review
- Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.Orphanet journal of rare diseases · 2024Article
- Primary Coenzyme Q10 Deficiency-Related Ataxias.Journal of clinical medicine · 2024Review
- Primary Coenzyme Q10 Deficiency-4 Causing Young Onset Ataxia-Dystonia.Movement disorders clinical practice · 2024Article
- Mutations of GEMIN5 are associated with coenzyme QEuropean journal of human genetics : EJHG · 2024Article
- The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review.Frontiers in pediatrics · 2024Article
55 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedLópez, Luis [corrected to López, Luis C]
Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
Coenzyme Q(10) (CoQ(10)) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. Primary CoQ(10) deficiency is due to defects in CoQ(10) biosynthesis, while secondary forms are due to other causes. A review of 149 cases, including our cohort of 76 patients, confirms that CoQ(10) deficiency is a clinically and genetically heterogeneous syndrome that mainly begins in childhood and predominantly manifests as cerebellar ataxia. Coenzyme Q(10) measurement in muscle is the gold standard for diagnosis. Identification of CoQ(10) deficiency is important because the condition frequently responds to treatment. Causative mutations have been identified in a small proportion of patients.
Indexed as
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.