{"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":1793473370343,"version":"4.5.0"},"reference-count":40,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Case Rep"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Primary deficiency of coenzyme Q\n                      <jats:sub>10<\/jats:sub>\n                      deficiency-4 (CoQ\n                      <jats:sub>10<\/jats:sub>\n                      D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case report:<\/jats:title>\n                    <jats:p>\n                      We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4\u2009mg\/dL), lactate (7.5\u2009mmol\/L), and CoQ10 level (0.4\u2009\u00b5g\/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C&gt;T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ\n                      <jats:sub>10<\/jats:sub>\n                      D4. After supplementary treatment with CoQ\n                      <jats:sub>10<\/jats:sub>\n                      50\u2009mg\/twice a day for 2\u2009months the clinical symptoms improved.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11795476231188061","type":"journal-article","created":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T03:05:17Z","timestamp":1689649517000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature"],"prefix":"10.1177","volume":"16","author":[{"given":"Mahsa","family":"Hojabri","sequence":"first","affiliation":[{"name":"Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abolfazl","family":"Gilani","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rana","family":"Irilouzadian","sequence":"additional","affiliation":[{"name":"Burn Research Center, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Habibe","family":"Nejad biglari","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Kerman University of Medical Sciences, Kerman, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0264-8903","authenticated-orcid":false,"given":"Roham","family":"Sarmadian","sequence":"additional","affiliation":[{"name":"Infectious Diseases Research Center, Arak University of Medical Sciences, Arak, 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