{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T15:02:38Z","timestamp":1784732558812,"version":"3.55.0"},"reference-count":4,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,4,20]],"date-time":"2019-04-20T00:00:00Z","timestamp":1555718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001477","name":"Bachmann-Strauss Dystonia and Parkinson Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001477","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT089698\/Z\/09\/Z"],"award-info":[{"award-number":["WT089698\/Z\/09\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically defined dystonia syndromes, distinct clinico\u2010radiological phenotypes are a welcome handle to guide the diagnostic work\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Exome sequencing was used to elucidate the genetic cause of a syndrome characterized by generalized dystonia, pyramidal and cerebellar involvement, with bilateral striatal necrosis (<jats:styled-content style=\"fixed-case\">BSN<\/jats:styled-content>) and cerebellar atrophy on magnetic resonance imaging. Homozygosity mapping and linkage analysis were used in a supportive role. Known genetic causes of <jats:styled-content style=\"fixed-case\">BSN<\/jats:styled-content> were excluded by use of exome data or Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Compound heterozygous mutations were identified in the <jats:italic><jats:styled-content style=\"fixed-case\">NUBPL<\/jats:styled-content><\/jats:italic> gene in a small <jats:styled-content style=\"fixed-case\">UK<\/jats:styled-content> kindred. The gene lay in a region of positive linkage and segregated with disease in a family of six individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">NUBPL<\/jats:styled-content><\/jats:italic> mutations cause early onset, autosomal recessive generalized dystonia with cerebellar ataxia, pyramidal signs, preserved cognition and a distinct magnetic resonance imaging appearance with <jats:styled-content style=\"fixed-case\">BSN<\/jats:styled-content> and cerebellar atrophy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13956","type":"journal-article","created":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T18:42:32Z","timestamp":1553193752000},"page":"1240-1243","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Mitochondrial complex I <i><scp>NUBPL<\/scp><\/i> mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4127-8554","authenticated-orcid":false,"given":"B.","family":"Balint","sequence":"first","affiliation":[{"name":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London UK"},{"name":"Department of Neurology University Hospital Heidelberg Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Charlesworth","sequence":"additional","affiliation":[{"name":"Department of Neurology Charing Cross Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Stamelou","sequence":"additional","affiliation":[{"name":"Second Department of Neurology Attiko Hospital University of Athens Athens Greece"},{"name":"Parkinson's Disease and Movement Disorders Department HYGEIA Hospital Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Carr","sequence":"additional","affiliation":[{"name":"Neuroscience Department GOSH London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. E.","family":"Mencacci","sequence":"additional","affiliation":[{"name":"Department of Neurology Northwestern University Chicago IL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. W.","family":"Wood","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience Institute of Neurology University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. P.","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,4,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12650"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31828f1914"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21654"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.659"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.13956","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.13956","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.13956","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T11:55:10Z","timestamp":1694260510000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.13956"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,20]]},"references-count":4,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1111\/ene.13956"],"URL":"https:\/\/doi.org\/10.1111\/ene.13956","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,4,20]]},"assertion":[{"value":"2018-12-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}