{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T06:10:38Z","timestamp":1772259038184,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,2]],"date-time":"2020-08-02T00:00:00Z","timestamp":1596326400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Primary deficiency of coenzyme Q10 deficiency\u20104 (COQ10D4) is an autosomal recessive cerebellar ataxia with mitochondrial respiratory chain disfunction. The main clinical manifestation involves early\u2010onset exercise intolerance, progressive cerebellar ataxia, and movement disorders. <jats:italic>COQ8A<\/jats:italic> gene mutations are responsible for this disease. Here, we provide clinical, laboratory, and genetic findings of a patient with cerebellar ataxia caused by compound heterozygous mutations in <jats:italic>COQ8A<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A male patient from a non\u2010consanguineous Chinese family underwent detailed physical and auxiliary examination. After exclusion of acquired causes of ataxia, Friedreich's Ataxia, and common types of spinocerebellar ataxia, the patient was subjected to whole exome sequencing (WES) followed by confirmation of sequence variants using Sanger sequencing. His asymptomatic parents, two brothers and one sister were genotyped for these variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This patient showed early\u2010onset exercise intolerance and progressive cerebellar ataxia, wide\u2010based gait and tremor, accompanied by symptoms of dysautonomia. His serum lactate level was elevated and plasma total Coenzyme Q10 (CoQ10) was decreased. Brain MRI showed cerebellar atrophy, and X\u2010ray of the spine revealed thoraco\u2010lumbar scoliosis. Compound heterozygous mutations in the <jats:italic>COQ8A<\/jats:italic> gene were identified through WES: c.1844_1845insG, p.Ser616Leufs*114 and c.902G&gt;A, p.Arg301Gln. After treatment with ubidecarenone, 40\u00a0mg three times per day for 2\u00a0years, the symptoms dramatically improved.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We identified a patient with COQ10D4 caused by novel <jats:italic>COQ8A<\/jats:italic> mutations. Our findings widen the spectrum of <jats:italic>COQ8A<\/jats:italic> gene mutations and clinical manifestations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1420","type":"journal-article","created":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T06:02:29Z","timestamp":1596434549000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Primary coenzyme Q10 deficiency due to <i>COQ8A<\/i> gene mutations"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7094-8345","authenticated-orcid":false,"given":"Linwei","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neurology China\u2010Japan Friendship Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuo","family":"Ashizawa","sequence":"additional","affiliation":[{"name":"Houston Methodist Research Institute and Department of Neurology Houston Methodist Neurological Institute Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dantao","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Neurology China\u2010Japan Friendship Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/EBC20170107"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI69000"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000134607.76780.B2"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12742"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2013_251"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12667"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2012.206"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2019.09.015"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm054"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2010.05.008"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000113719.67643.B7"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9434-1"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301258"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000194241.35115.7c"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2017_73"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.024"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-306483"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-173"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.022"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.7.849"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.05.001"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chembiol.2017.11.001"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11064-019-02786-5"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0007-7"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25751"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-019-0091-x"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737159.2018.1478290"},{"issue":"6","key":"e_1_2_9_29_1","first-page":"463","article-title":"Plasma vitamin E and coenzyme Q10 levels and clinical significance in patients with autosomal recessive cerebellar ataxia","volume":"49","author":"Zhang X.","year":"2016","journal-title":"Chinese Journal of Neurology"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1420","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1420","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1420","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1420","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T06:44:44Z","timestamp":1720075484000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,2]]},"references-count":28,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1002\/mgg3.1420"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1420","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,2]]},"assertion":[{"value":"2020-04-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1420"}}