{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T10:28:10Z","timestamp":1790504890546,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,7,12]],"date-time":"2016-07-12T00:00:00Z","timestamp":1468281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["AZ.031A318"],"award-info":[{"award-number":["AZ.031A318"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["PR1527\/1\u20101 and SCHU1187\/4\u20101 and NeuroCure Exc"],"award-info":[{"award-number":["PR1527\/1\u20101 and SCHU1187\/4\u20101 and NeuroCure Exc"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Recessive mutations in the 3\u2010hydroxyisobutyryl\u2010CoA hydrolase gene (<jats:italic>HIBCH<\/jats:italic>) are associated with a rare neurodegenerative disease that affects the basal ganglia. Most patients die during infancy or early childhood. Here we describe 5 adolescent and adult patients from 2 unrelated families, who presented with a movement disorder and MRI features suggestive of Leigh syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical and metabolic assessment was followed by autozygosity mapping and whole exome and Sanger sequencing. HIBCH enzyme activity and the bioenergetic profile were determined in patient fibroblasts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The movement disorder was dominated by ataxia in one family and by dystonia in the other. All affected family members carried the identical homozygous c.913A&gt;G (p.T305A) <jats:italic>HIBCH<\/jats:italic> mutation. Enzyme activity was reduced, and a valine challenge reduced the oxygen consumption rate.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report the first adult patients with <jats:italic>HIBCH<\/jats:italic> deficiency and a disease course much milder than previously reported, thereby expanding the <jats:italic>HIBCH<\/jats:italic>\u2010associated phenotypic spectrum. \u00a9 2016 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.26704","type":"journal-article","created":{"date-parts":[[2016,7,12]],"date-time":"2016-07-12T01:39:13Z","timestamp":1468287553000},"page":"1733-1739","source":"Crossref","is-referenced-by-count":31,"title":["A movement disorder with dystonia and ataxia caused by a mutation in the <i>HIBCH<\/i> gene"],"prefix":"10.1002","volume":"31","author":[{"given":"Gudrun","family":"Schottmann","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics and NeuroCure Clinical Research Center Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akosua","family":"Sarpong","sequence":"additional","affiliation":[{"name":"Sozialp\u00e4diatrisches Zentrum Neurop\u00e4diatrie Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Lorenz","sequence":"additional","affiliation":[{"name":"Max Delbr\u00fcck Center for Molecular Medicine (MDC) Berlin\u2010Buch Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Weinhold","sequence":"additional","affiliation":[{"name":"Sozialp\u00e4diatrisches Zentrum Stoffwechsel Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin German"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Gill","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and NeuroCure Clinical Research Center Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Teschner","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and NeuroCure Clinical Research Center Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha","family":"Ferdinandusse","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Pediatrics, Emma Children's Hospital University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J. A.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Pediatrics, Emma Children's Hospital University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Prigione","sequence":"additional","affiliation":[{"name":"Max Delbr\u00fcck Center for Molecular Medicine (MDC) Berlin\u2010Buch Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Schuelke","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and NeuroCure Clinical Research Center Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,7,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/510725"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9236-x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.42.26430"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11064-008-9895-2"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-188"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.06.008"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36766"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.05.008"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2014.10.003"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.10.023"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.70.4.532"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.1.73"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10377"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks487"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-2257-4_25"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.683"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.189"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu216"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.26704","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.26704","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.26704","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:49:33Z","timestamp":1760960973000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.26704"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,12]]},"references-count":19,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1002\/mds.26704"],"URL":"https:\/\/doi.org\/10.1002\/mds.26704","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,12]]}}}