ArticleClinical genetics2016
Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
Article in Clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 43 citations in OpenAlex.
- Effect of six weeks ubiquinol supplementation on mitochondrial respiratory function and exercise capacity in healthy males.European journal of applied physiology · 2026Trial
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.Orphanet journal of rare diseases · 2026Article
- 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
- Identification of Potent ADCK3 Inhibitors through Structure-Based Virtual Screening.Journal of chemical information and modeling · 2024Article
- A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Coenzyme Q10 Metabolism: A Review of Unresolved Issues.International journal of molecular sciences · 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
- Review
- Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.Journal of medical genetics · 2022Article
- Technical Aspects of Coenzyme QAntioxidants (Basel, Switzerland) · 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
- Minimal mitochondrial respiration is required to prevent cell death by inhibition of mTOR signaling in CoQ-deficient cells.Cell death discovery · 2021Article
- Familial writer's cramp: a clinical clue for inherited coenzyme QNeurogenetics · 2021Article
- Primary coenzyme Q10 deficiency due to COQ8A gene mutations.Molecular genetics & genomic medicine · 2020Article
- Functional analysis of Aarf domain-containing kinase 1 in Drosophila melanogaster.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Article
- Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias.Current neuropharmacology · 2019Review
- One-year outcome of coenzyme Q10 supplementation inCerebellum & ataxias · 2019Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the patients. However, CoQ10 deficiency is a rare cause of cerebellar ataxia and ADCK3 is the most frequent gene associated with this defect. We herein report a 48 year old man, who presented with dysarthria and walking difficulties. Brain magnetic resonance imaging showed a marked cerebellar atrophy. Serum lactate was elevated. Tissues obtained by muscle and skin biopsies were studied for biochemical and genetic characterization. Skeletal muscle biochemistry revealed decreased activities of complexes I+III and II+III and a severe reduction of CoQ10 , while skin fibroblasts showed normal CoQ10 levels. A mild loss of maximal respiration capacity was also found by high-resolution respirometry. Molecular studies identified a novel homozygous deletion (c.504del_CT) in ADCK3, causing a premature stop codon. Western blot analysis revealed marked reduction of ADCK3 protein levels. Treatment with CoQ10 was started and, after 1 year follow-up, patient neurological condition slightly improved. This report suggests the importance of investigating mitochondrial function and, in particular, muscle CoQ10 levels, in patients with adult-onset cerebellar ataxia. Moreover, clinical stabilization by CoQ10 supplementation emphasizes the importance of an early diagnosis.
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Registered trials
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