ArticleJournal of neurology2014
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Article in Journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 83 citations in OpenAlex.
- Lipid flip-flop in biological membranes: through the lens of TMEM16F.Physiological reviews · 2027Review
- Downbeat nystagmus without ataxia as an early manifestation of spinocerebellar ataxia, autosomal recessive type 10 (SCAR10): a case report.Neurogenetics · 2026Article
- Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders.Cerebellum (London, England) · 2025Article
- Coenzyme QFree radical biology & medicine · 2025Article
- Understanding coenzyme Q.Physiological reviews · 2024Review
- CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias.Cerebellum (London, England) · 2024Review
- Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.American journal of human genetics · 2024Article
- Regulation of phospholipid distribution in the lipid bilayer by flippases and scramblases.Nature reviews. Molecular cell biology · 2023Review
- ANO10 Function in Health and Disease.Cerebellum (London, England) · 2023Review
- Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.Neurology. Genetics · 2023Article
- Expanding the Allelic Heterogeneity ofNeurology. Genetics · 2023Article
- The allosteric mechanism leading to an open-groove lipid conductive state of the TMEM16F scramblase.Communications biology · 2022Article
- Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.Internal medicine (Tokyo, Japan) · 2022Article
- Article
- Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10).BMJ case reports · 2022Article
- Polymodal Control of TMEM16x Channels and Scramblases.International journal of molecular sciences · 2022Review
- Vocal cord paralysis as a presenting sign of autosomal recessive spinocerebellar atrophy type 10.BMJ case reports · 2021Article
- Coenzyme Q at the Hinge of Health and Metabolic Diseases.Antioxidants (Basel, Switzerland) · 2021Review
- Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.Neuroradiology · 2021Review
- Gating and Regulatory Mechanisms of TMEM16 Ion Channels and Scramblases.Frontiers in physiology · 2021Review
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 3 countries.
Funding
Abstract
Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherited ataxia. In two patients with adult-onset cerebellar ataxia and coenzyme Q10 (CoQ10) deficiency in muscle, whole exome sequencing revealed mutations in ANO10, which encodes anoctamin 10, a member of a family of putative calcium-activated chloride channels, and the causative gene for autosomal recessive spinocerebellar ataxia-10 (SCAR10). Both patients presented with slowly progressive ataxia and dysarthria leading to severe disability in the sixth decade. Epilepsy and learning difficulties were also present in one patient, while retinal degeneration and cataract were present in the other. The detection of mutations in ANO10 in our patients indicate that ANO10 defects cause secondary low CoQ10 and SCAR10 patients may benefit from CoQ10 supplementation.
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