{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T19:02:50Z","timestamp":1793473370817,"version":"4.5.0"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100014764","name":"China International Medical Foundation","doi-asserted-by":"publisher","award":["Z-2016-20-2101"],"award-info":[{"award-number":["Z-2016-20-2101"]}],"id":[{"id":"10.13039\/501100014764","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Primary coenzyme Q10 (CoQ10) deficiency is a rare, treatable mitochondrial disorder often caused by biallelic pathogenic variants in\n                      <jats:italic>COQ8A<\/jats:italic>\n                      gene (also known as\n                      <jats:italic>ADCK3<\/jats:italic>\n                      ). It typically manifests as childhood-onset cerebellar ataxia with variable multisystem involvement. Early recognition is critical, as CoQ10 supplementation has potential to significantly alleviate clinical manifestations and modify natural progression of the disease. Here, we provide a rare phenotype of paroxysmal dyskinesias caused by compound heterozygous variants of\n                      <jats:italic>COQ8A<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case<\/jats:title>\n                    <jats:p>\n                      A 21-year-old man presented with myoclonic tremor, mild dysarthria, ataxia and emotional instability. The brain MRI showed cerebellar atrophy. Biochemical workup revealed low plasma CoQ10 levels. Whole-exome sequencing identified compound heterozygous\n                      <jats:italic>COQ8A<\/jats:italic>\n                      variants: two novel missense substitutions [NM_020247.5:c.641T&amp;gt;A (p.Leu214Gln), NM_020247.5:c.1621T&amp;gt;C (p.Ser541Pro)], each inherited from an asymptomatic parent. The patient was initiated on oral CoQ10 at a dose of 200\u00a0mg twice daily, accompanied by supportive interventions targeting emotional regulation. A marked improvement in tremor symptoms was observed shortly after treatment initiation; however, intermittent muscle tremors persisted during periods of emotional agitation. At 1-year follow-up, the patient remained on CoQ10 at 300\u00a0mg twice daily and levetiracetam at 500\u00a0mg twice daily, with sustained symptom control.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This case highlights that\n                      <jats:italic>COQ8A<\/jats:italic>\n                      -related CoQ10 deficiency can present with serious neurological crises among young people and underscores the importance of rapid genetic diagnosis in such scenarios. Early and aggressive CoQ10 supplementation led to clinical stabilization in our patient, reinforcing that primary CoQ10 deficiency is a reversible cause of neurodegenerative disease. We emphasize genotype-phenotype diversity in\n                      <jats:italic>COQ8A<\/jats:italic>\n                      disease and the crucial need for early detection and treatment to improve prognosis. We propose that clinicians maintain a high index of suspicion for primary CoQ10 deficiency in patients presenting with unexplained dystonia or ataxia, as timely intervention may significantly improve clinical outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2025.1682085","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T22:10:27Z","timestamp":1767737427000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4"],"prefix":"10.3389","volume":"16","author":[{"given":"Di","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guojian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojing","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"112","DOI":"10.5653\/cerm.2019.00136","article-title":"The impact of two doses of coenzyme Q10 on semen parameters and antioxidant status in men with idiopathic oligoasthenoteratozoospermia","volume":"46","author":"Alahmar","year":"2019","journal-title":"Clin. 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Nephrol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1002\/ana.25751","article-title":"Clinico-genetic, imaging and molecular delineation of COQ8A-Ataxia: a multicenter study of 59 patients","volume":"88","author":"Trasch\u00fctz","year":"2020","journal-title":"Ann. Neurol."},{"key":"B12","doi-asserted-by":"publisher","first-page":"e1420","DOI":"10.1002\/mgg3.1420","article-title":"Primary coenzyme Q10 deficiency due to COQ8A gene mutations","volume":"8","author":"Zhang","year":"2020","journal-title":"Mol. Genet. 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