ArticleMolecular genetics & genomic medicine2020
Primary coenzyme Q10 deficiency due to COQ8A gene mutations.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The efficacy of coenzyme QJournal of cellular and molecular medicine · 2022Pooled it
- Shaky Beginnings: A Novel CoQ8A Mutation in Adolescent-Onset Cerebellar Ataxia with Head Tremors.Annals of Indian Academy of Neurology · 2025Article
- Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4.Frontiers in genetics · 2025Article
- 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
- 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
- Adult-onset status epilepticus in patients with COQ8A coenzyme Q10 deficiency: A case series.Epilepsy & behavior reports · 2024Article
- Human brain single nucleus cell type enrichments in neurodegenerative diseases.Research square · 2023Article
- Ataxia due to a COQ8A Novel Variant in Primary Coenzyme Q10 Deficiency.Movement disorders clinical practice · 2023Article
- Phenotypic, molecular, and functional characterization of COQ7-related primary CoQMolecular genetics and metabolism · 2023Article
- Human brain single nucleus cell type enrichments in neurodegenerative diseases.medRxiv : the preprint server for health sciences · 2023Article
- Neuroimaging in Primary Coenzyme-QAntioxidants (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
- Combined Supplementation of Coenzyme QNutrients · 2022Review
- Review
- A novelMolecular genetics and metabolism reports · 2022Article
- Follow-up of 25 patients with treatable ataxia: A comprehensive case series study.Clinical case reports · 2022Article
- Primary coenzyme Q10 deficiency due to COQ8A gene mutations.Molecular genetics & genomic medicine · 2020Article
- Stroke-Like Episodes and Epilepsy in a Patient with COQ8A-Related Coenzyme Q10 Deficiency.Annals of Indian Academy of NeurologyArticle
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3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary deficiency of coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive cerebellar ataxia with mitochondrial respiratory chain disfunction. The main clinical manifestation involves early-onset exercise intolerance, progressive cerebellar ataxia, and movement disorders. COQ8A gene mutations are responsible for this disease. Here, we provide clinical, laboratory, and genetic findings of a patient with cerebellar ataxia caused by compound heterozygous mutations in COQ8A gene.
methodsA male patient from a non-consanguineous Chinese family underwent detailed physical and auxiliary examination. After exclusion of acquired causes of ataxia, Friedreich's Ataxia, and common types of spinocerebellar ataxia, the patient was subjected to whole exome sequencing (WES) followed by confirmation of sequence variants using Sanger sequencing. His asymptomatic parents, two brothers and one sister were genotyped for these variants.
resultsThis patient showed early-onset exercise intolerance and progressive cerebellar ataxia, wide-based gait and tremor, accompanied by symptoms of dysautonomia. His serum lactate level was elevated and plasma total Coenzyme Q10 (CoQ10) was decreased. Brain MRI showed cerebellar atrophy, and X-ray of the spine revealed thoraco-lumbar scoliosis. Compound heterozygous mutations in the COQ8A gene were identified through WES: c.1844_1845insG, p.Ser616Leufs*114 and c.902G>A, p.Arg301Gln. After treatment with ubidecarenone, 40 mg three times per day for 2 years, the symptoms dramatically improved.
conclusionsWe identified a patient with COQ10D4 caused by novel COQ8A mutations. Our findings widen the spectrum of COQ8A gene mutations and clinical manifestations.
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