{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:58:24Z","timestamp":1777395504862,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T00:00:00Z","timestamp":1687219200000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title><jats:p>Hypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke\u2010like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloperidol and mitochondrial cocktails have proven beneficial in some of these cases. Here we present another patient with mitochondrial choreaballism who benefited significantly from symptomatic therapy. The patient is a 14\u2010year\u2010old male with a history of hypoacusis, ptosis, and focal tonic\u2013clonic seizures of the upper\/lower limbs on either side since childhood. Since this time he has also developed occasional, abnormal involuntary limb movements, choreaballism, facial grimacing, carpopedal spasms, and abnormal lip sensations. He was diagnosed with a non\u2010syndromic mitochondrial disorder after detection of the variant m.15043G\u2009&gt;\u2009A in <jats:italic>MT\u2010CYB<\/jats:italic>. Seizures have been successfully treated with lamotrigine. Hypocalcemia was treated with intravenous calcium. For hypoparathyroidism calcitriol was given. Choreaballism was treated with haloperidol and tetrabenazine. In addition, he received coenzyme Q10, L\u2010carnitine, thiamine, riboflavin, alpha\u2010lipoic acid, biotin, vitamin\u2010C, vitamin\u2010E, and creatine\u2010monohydrate. With this therapy, the choreaballism disappeared completely. This case shows that mitochondrial disorders can manifest with cognitive impairment, seizures, movement disorder, hypoacusis, endocrinopathy, cardiomyopathy, neuropathy, and myopathy, that choreaballism can be a phenotypic feature of multisystem mitochondrial disorders, and that choreaballism favorably responds to haloperidol, tetrabenazine, and possibly to a cocktail of antioxidants, cofactors, and vitamins.<\/jats:p>","DOI":"10.1002\/ccr3.7592","type":"journal-article","created":{"date-parts":[[2023,6,21]],"date-time":"2023-06-21T04:36:58Z","timestamp":1687322218000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Effective treatment of choreaballism due to an <i>MT\u2010CYB<\/i> variant with haloperidol, tetrabenazine, and antioxidants"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2839-7305","authenticated-orcid":false,"given":"Josef","family":"Finsterer","sequence":"first","affiliation":[{"name":"Neurology &amp; Neurophysiology Center  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8192-0807","authenticated-orcid":false,"given":"Ritwik","family":"Ghosh","sequence":"additional","affiliation":[{"name":"Department of General Medicine Burdwan Medical College &amp; Hospital  Burdwan West Bengal India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,20]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2016.2581"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000250334.48038.7a"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09619-z"},{"key":"e_1_2_11_5_1","volume-title":"StatPearls [Internet]","author":"Hameed S","year":"2021"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00592-017-0982-1"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-018-1936-0"},{"key":"e_1_2_11_8_1","first-page":"502","article-title":"A case of MELAS presenting juvenileonset hyperglycemic chorea\u2010ballism","volume":"45","author":"Nakagaki H","year":"2005","journal-title":"Rinsh\u014d Shinkeigaku"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-021-10697-1"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10102063"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.541"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.17458\/per.vol16.2018.f.mitochondrialdisorders"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2016.07.003"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2020.116950"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2020.116947"},{"key":"e_1_2_11_16_1","unstructured":"MITOMAP.Reported Mitochondrial DNA Base Substitution Diseases: Coding and Control Region Point Mutations. 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