ArticleMovement disorders clinical practice
ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.
Article in Movement disorders clinical practice. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 35 citations in OpenAlex.
- 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
- Shaky Beginnings: A Novel CoQ8A Mutation in Adolescent-Onset Cerebellar Ataxia with Head Tremors.Annals of Indian Academy of Neurology · 2025Article
- The ADCK Kinase Family: Key Regulators of Bioenergetics and Mitochondrial Function and Their Implications in Human Cancers.International journal of molecular sciences · 2025Review
- Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.Cerebellum (London, England) · 2024Review
- Refractory Epilepsy in Adult Patient WithNeurology. Genetics · 2024Article
- Understanding coenzyme Q.Physiological reviews · 2024Review
- 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
- The conserved active site aspartate residue is required for the function of the chloroplast atypical kinase ABC1K1.Frontiers in plant science · 2024Article
- Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023Review
- Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.Clinical medicine insights. Case reports · 2023Article
- A Diagnostic Approach to Spastic ataxia Syndromes.Cerebellum (London, England) · 2022Review
- Review
- A novelMolecular genetics and metabolism reports · 2022Article
- Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy.Journal of molecular neuroscience : MN · 2022Article
- Article
- Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.Translational neurodegeneration · 2021Article
- Cellular Models for Primary CoQ Deficiency Pathogenesis Study.International journal of molecular sciences · 2021Review
- Familial writer's cramp: a clinical clue for inherited coenzyme QNeurogenetics · 2021Article
- Treatable Hyperkinetic Movement Disorders Not to Be Missed.Frontiers in neurology · 2021Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDisorders related to dysfunction of coenzyme (CoQ
methodsWe describe two new cases of neurological syndromes due to ADCK3 mutations that obtained striking benefit from CoQ10, and a third who did not. We also review 20 cases from the literature in which responses to CoQ10 were documented out of all 38 previously reported cases.
resultsDespite the remarkable responses in some cases with ataxia and movement disorders (myoclonus, dystonia, tremor), overall, we were not able to identify variables that predicted response to CoQ
conclusionsBased on our experience and data from the literature, we recommend a minimum of 10 mg/kg/day of ubiquinone with titration up to 15 mg/kg/day, maintained at least for 6 months in order to obtain or exclude potential benefit from therapy.
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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.