{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:49:34Z","timestamp":1786978174397,"version":"build-2736575974"},"reference-count":10,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,2,22]],"date-time":"2014-02-22T00:00:00Z","timestamp":1393027200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Depression, parkinsonism, and hypoventilation (Perry syndrome) or familial motor neuron disease have been linked to mutations in dynactin P150\n                      <jats:sup>Glued<\/jats:sup>\n                      (\n                      <jats:italic>DCTN1<\/jats:italic>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We employed genealogic, clinical, neurologic, and MRI investigations, as well as analysis of genes implicated in parkinsonism. Cellular transfection, immunocytochemistry, and immunoprecipitation analysis of wild\u2010type (WT) and mutant\n                      <jats:italic>DCTN1<\/jats:italic>\n                      were also performed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A novel heterozygous mutation,\n                      <jats:italic>DCTN1<\/jats:italic>\n                      c.156T&gt;G, encoding p.Phe52Leu, segregates with parkinsonism in a Japanese family. The substitution was not observed in affected probands with familial parkinsonism or control subjects and is evolutionarily conserved. In contrast to Perry syndrome, affected carriers have late\u2010onset disease and slower progression, with frontotemporal atrophy revealed by MRI.\n                      <jats:italic>In vitro<\/jats:italic>\n                      studies suggest the mutant protein has impaired microtubule binding, compared to WT dynactin p150\n                      <jats:sup>Glued<\/jats:sup>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>DCTN1<\/jats:italic>\n                      mutations may contribute to disparate neurodegenerative diagnoses, including familial motor neuron disease, parkinsonism, and frontotemporal atrophy, and further studies of dynactin\u2010mediated cargo transport may prove insightful. \u00a9 2014 International Parkinson and Movement Disorder Society\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.25833","type":"journal-article","created":{"date-parts":[[2014,2,24]],"date-time":"2014-02-24T12:54:18Z","timestamp":1393246458000},"page":"1201-1204","source":"Crossref","is-referenced-by-count":38,"title":["A Novel\n                    <i>DCTN1<\/i>\n                    mutation with late\u2010onset parkinsonism and frontotemporal atrophy"],"prefix":"10.1002","volume":"29","author":[{"given":"Eiichi","family":"Araki","sequence":"first","affiliation":[{"name":"Department of Neurology National Omuta Hospital Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshio","family":"Tsuboi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine Fukuoka University Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justus","family":"Daechsel","sequence":"additional","affiliation":[{"name":"Department of Cancer Cell Biology Mayo Clinic Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Austen","family":"Milnerwood","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carles","family":"Vilarino\u2010Guell","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Fujii","sequence":"additional","affiliation":[{"name":"Department of Neurology National Omuta Hospital Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayasu","family":"Mishima","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine Fukuoka University Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Oka","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Internal Medicine Saga University Faculty of Medicine Saga Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideo","family":"Hara","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Internal Medicine Saga University Faculty of Medicine Saga Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiro","family":"Fukae","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine Fukuoka University Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J.","family":"Farrer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,2,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2007.07.014"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.293"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.08.044"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0246-1"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2008.07.005"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2010.07.001"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1123"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20468"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.07.013"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2008.558"}],"container-title":["Movement 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