{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:32:39Z","timestamp":1791228759969,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,12,15]],"date-time":"2005-12-15T00:00:00Z","timestamp":1134604800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2006,3]]},"abstract":"Abstract<\/jats:title> Objective <\/jats:italic><\/jats:styled-content><\/jats:title>Motor neuron disease (MND) is a common neurodegenerative condition for which the underlying cause is uncertain in many patients. We identified a patient with clinical features suggestive of MND but additional cardiac and metabolic symptoms. We wished to determine if the clinical features were due to a mitochondrial DNA mutation.<\/jats:p><\/jats:sec>Methods <\/jats:italic><\/jats:styled-content><\/jats:title>The brain and spinal cord were studied using neuropathological techniques and agenetic defect investigated in individual neurons.<\/jats:p><\/jats:sec>Results <\/jats:italic><\/jats:styled-content><\/jats:title>There were atypical neuropathological features and genetic studies identified a pathogenic, heteroplasmic mitochondria tRNAIle<\/jats:sup> (4274T>C) mutation.<\/jats:p><\/jats:sec>Interpretation<\/jats:italic><\/jats:styled-content><\/jats:title>This case adds to the phenotypic variation seen in mitochondrial DNA disease but also highlights the potential role of mitochondrial dysfunction in the cause of MND. Ann Neurol 2006<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.20758","type":"journal-article","created":{"date-parts":[[2005,12,15]],"date-time":"2005-12-15T23:41:40Z","timestamp":1134690100000},"page":"570-574","source":"Crossref","is-referenced-by-count":46,"title":["Motor neuron disease in a patient with a mitochondrial tRNAIle<\/sup> mutation"],"prefix":"10.1002","volume":"59","author":[{"given":"Gillian M.","family":"Borthwick","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy J.","family":"Walls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kasia","family":"Tonska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geoffrey A.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela J.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul G.","family":"Ince","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglass M.","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2,17]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199911)46:5<787::AID-ANA17>3.0.CO;2-8"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.4.1166"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(02)00159-X"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2559.1997.2870891.x"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/62.11.1166"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330106"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.15.e74"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000058901.75728.4E"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/13779"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430119"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.2.383"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1606"},{"key":"e_1_2_6_14_2","series-title":"Clinical physiology of motor neuron diseases","first-page":"149","author":"Ince PG","year":"2004"},{"key":"e_1_2_6_15_2","first-page":"S1","article-title":"Defining optimal management in ALS: from first symptoms to announcement","volume":"53","author":"Brooks BR","year":"1999","journal-title":"Neurology"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2003.tb00002.x"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90259-7"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awf167"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20758","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20758","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T03:15:45Z","timestamp":1695957345000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20758"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,17]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,3]]}},"alternative-id":["10.1002\/ana.20758"],"URL":"https:\/\/doi.org\/10.1002\/ana.20758","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,17]]}}}