ArticleJIMD reports2018
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q
Article in JIMD reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Identification of a newMolecular genetics and metabolism reports · 2025Article
- Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.Cerebellum (London, England) · 2024Review
- Understanding coenzyme Q.Physiological reviews · 2024Review
- Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview.Antioxidants (Basel, Switzerland) · 2024Review
- Primary Coenzyme Q10 Deficiency-4 Causing Young Onset Ataxia-Dystonia.Movement disorders clinical practice · 2024Article
- Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023Review
- Ataxia due to a COQ8A Novel Variant in Primary Coenzyme Q10 Deficiency.Movement disorders clinical practice · 2023Article
- Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.Clinical medicine insights. Case reports · 2023Article
- Review
- Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer.Scientific reports · 2022Article
- Loss of Drosophila Coq8 results in impaired survival, locomotor deficits and photoreceptor degeneration.Molecular brain · 2022Article
- Cellular Models for Primary CoQ Deficiency Pathogenesis Study.International journal of molecular sciences · 2021Review
- Contaminating DNA in human saliva alters the detection of variants from whole genome sequencing.Scientific reports · 2020Article
- Primary coenzyme Q10 deficiency due to COQ8A gene mutations.Molecular genetics & genomic medicine · 2020Article
- Expression Quantitative Trait Loci in Equine Skeletal Muscle Reveals Heritable Variation in Metabolism and the Training Responsive Transcriptome.Frontiers in genetics · 2019Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive ataxias are characterised by a fundamental loss in coordination of gait with associated atrophy of the cerebellum. There is significant clinical and genetic heterogeneity amongst inherited ataxias; however, an early molecular diagnosis is essential with low-risk treatments available for some of these conditions. We describe two female siblings who presented early in life with unsteady gait and cerebellar atrophy. Whole exome sequencing revealed compound heterozygous inheritance of two pathogenic mutations (p.Leu277Pro, c.1506+1G>A) in the coenzyme Q8A gene (COQ8A), a gene central to biosynthesis of coenzyme Q (CoQ). The paternally derived p.Leu277Pro mutation is predicted to disrupt a conserved motif in the substrate-binding pocket of the protein, resulting in inhibition of CoQ
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