ArticleAnnals of neurology2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Article in Annals of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- The efficacy of coenzyme QJournal of cellular and molecular medicine · 2022Pooled it
- Recurrent posterior stroke-like lesions heralding COQ8A-related coenzyme Q10 deficiency: a potentially treatable ataxia mistaken for stroke: a case report.Journal of neurology · 2026Article
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Shaky Beginnings: A Novel CoQ8A Mutation in Adolescent-Onset Cerebellar Ataxia with Head Tremors.Annals of Indian Academy of Neurology · 2025Article
- Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.Annals of neurology · 2025Review
- Tremors with dystonia as a predominant manifestation of primary coenzyme Q10 deficiency.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Therapies for Mitochondrial Disease: Past, Present, and Future.Journal of inherited metabolic disease · 2025Review
- Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4.Frontiers in genetics · 2025Article
- A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course.Journal of neurology · 2024Article
- Prenatal and progressive coenzyme QJournal of cachexia, sarcopenia and muscle · 2024Article
- Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme QNeurology. Genetics · 2024Article
- Refractory Epilepsy in Adult Patient WithNeurology. Genetics · 2024Article
- Understanding coenzyme Q.Physiological reviews · 2024Review
- Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.Cerebellum (London, England) · 2024Review
- Metabolic Determinants of Cerebellar Circuit Formation and Maintenance.Cerebellum (London, England) · 2024Review
- Item performance of the scale for the assessment and rating of ataxia in rare and ultra-rare genetic ataxias.CPT: pharmacometrics & systems pharmacology · 2024Article
- Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.Parkinsonism & related disorders · 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
- Review
Corrections and comments
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Authors and funding
42 authors at 20 institutions in 10 countries.
Funding
Abstract
objectiveTo foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A-ataxia in a large worldwide cohort, and provide first progression data, including treatment response to coenzyme Q10 (CoQ10).
methodsCross-modal analysis of a multicenter cohort of 59 COQ8A patients, including genotype-phenotype correlations, 3D-protein modeling, in vitro mutation analyses, magnetic resonance imaging (MRI) markers, disease progression, and CoQ10 response data.
resultsFifty-nine patients (39 novel) with 44 pathogenic COQ8A variants (18 novel) were identified. Missense variants demonstrated a pleiotropic range of detrimental effects upon protein modeling and in vitro analysis of purified variants. COQ8A-ataxia presented as variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus as presenting symptoms. Multisystemic involvement was more prevalent in missense than biallelic loss-of-function variants (82-93% vs 53%; p = 0.029). Cerebellar atrophy was universal on MRI (100%), with cerebral atrophy or dentate and pontine T2 hyperintensities observed in 28%. Cross-sectional (n = 34) and longitudinal (n = 7) assessments consistently indicated mild-to-moderate progression of ataxia (SARA: 0.45/year). CoQ10 treatment led to improvement by clinical report in 14 of 30 patients, and by quantitative longitudinal assessments in 8 of 11 patients (SARA: -0.81/year). Explorative sample size calculations indicate that ≥48 patients per arm may suffice to demonstrate efficacy for interventions that reduce progression by 50%.
interpretationThis study provides a deeper understanding of the disease, and paves the way toward large-scale natural history studies and treatment trials in COQ8A-ataxia. ANN NEUROL 2020;88:251-263.
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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.