{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:34:22Z","timestamp":1762004062315,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,12]]},"abstract":"<jats:p>The m.8993T\u2192C <jats:italic>MTATP6<\/jats:italic> mutation of mitochondrial DNA (mtDNA) usually causes mitochondrial disease in childhood, but was recently described in a family with adult onset ataxia and polyneuropathy. Cytochrome c oxidase muscle histochemistry, which is the standard clinical investigation for mitochondrial disease in adults, is usually normal in patients with <jats:italic>MTATP6<\/jats:italic> mutations. This raises the possibility that these cases have been missed in the past. We therefore studied 308 patients with unexplained ataxia and 96 patients with suspected Charcot\u2013Marie\u2013Tooth disease to determine whether the m.8993T\u2192C <jats:italic>MTATP6<\/jats:italic> mutation is common in unexplained inherited ataxia and\/or polyneuropathy. We identified a three-generation family with the m.8993T\u2192C mutation of mtDNA. One subject had episodic ataxia (EA) and transient hemipareses, broadening the phenotype. However, no further cases were identified in an additional cohort of 191 patients with suspected EA. In conclusion, m.8993T\u2192C <jats:italic>MTATP6<\/jats:italic> should be considered in patients with unexplained ataxia, CMT or EA, but cases are uncommon.<\/jats:p>","DOI":"10.1136\/jmg.2007.052902","type":"journal-article","created":{"date-parts":[[2007,11,30]],"date-time":"2007-11-30T16:28:03Z","timestamp":1196440083000},"page":"797-799","source":"Crossref","is-referenced-by-count":31,"title":["Episodic ataxia and hemiplegia caused by the 8993T\u2192C mitochondrial DNA mutation: Figure 1"],"prefix":"10.1136","volume":"44","author":[{"given":"K","family":"Craig","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H R","family":"Elliott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S M","family":"Keers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Pyle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T D","family":"Graves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Woodward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M G","family":"Sweeney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M B","family":"Davis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M G","family":"Hanna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P F","family":"Chinnery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2007,11,30]]},"reference":[{"key":"2025101722451695000_44.12.797.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(02)00159-X"},{"key":"2025101722451695000_44.12.797.2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410340319"},{"key":"2025101722451695000_44.12.797.3","first-page":"428","article-title":"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.","volume":"46","author":"Holt","year":"1990","journal-title":"Am J Hum Genet"},{"key":"2025101722451695000_44.12.797.4","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20555"},{"key":"2025101722451695000_44.12.797.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043109"},{"key":"2025101722451695000_44.12.797.6","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005639407166"},{"key":"2025101722451695000_44.12.797.7","doi-asserted-by":"publisher","DOI":"10.1086\/302488"},{"key":"2025101722451695000_44.12.797.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(00)02120-X"},{"key":"2025101722451695000_44.12.797.9","doi-asserted-by":"publisher","DOI":"10.1086\/302192"},{"key":"2025101722451695000_44.12.797.10","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl334"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2007.052902","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:45:25Z","timestamp":1760766325000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2007.052902"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11,30]]},"references-count":10,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2007,11,30]]},"published-print":{"date-parts":[[2007,12]]}},"alternative-id":["10.1136\/jmg.2007.052902"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2007.052902","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[2007,11,30]]}}}