{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T12:48:39Z","timestamp":1762260519949,"version":"build-2065373602"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,2,11]],"date-time":"2016-02-11T00:00:00Z","timestamp":1455148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2016,5]]},"abstract":"Abstract<\/jats:title>\n \n The patient was a 65\u2010year\u2010old woman who became gradually more prone to falling from age 30 and who was visiting the hospital on an outpatient basis following a diagnosis of multiple system atrophy, cerebellar type. While eating, she started choking as a result of aspiration and was transported to our hospital by ambulance. Head magnetic resonance imaging (\n MRI<\/jats:styled-content>\n ) revealed tadpole\u2010like atrophy of the brainstem, i.e. marked atrophy of the medulla oblongata and cervical spinal cord with disproportionately slight atrophy of the pons. Her eldest son also had the same symptoms, suggesting Alexander disease. A search of the glial fibrillary acidic protein gene revealed the previously unreported mutation Y242N. The same\n MRI<\/jats:styled-content>\n findings and genetic mutation were confirmed in her 38\u2010year\u2010old son. Adult onset Alexander disease is a rare condition with very few reported familial cases. We hereby report this case with a discussion of the literature.\n <\/jats:p>","DOI":"10.1002\/mdc3.12296","type":"journal-article","created":{"date-parts":[[2016,2,11]],"date-time":"2016-02-11T08:10:56Z","timestamp":1455178256000},"page":"300-302","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Familial Adult\u2010Onset Alexander Disease with a Novel\n \n GFAP<\/scp>\n <\/i>\n Mutation"],"prefix":"10.1002","volume":"3","author":[{"given":"Hana","family":"Ogura","sequence":"first","affiliation":[{"name":"Division of Neurology Department of Internal Medicine St. Marianna University School of Medicine Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Futaba","family":"Maki","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Internal Medicine St. Marianna University School of Medicine Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoshi","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Internal Medicine St. Marianna University School of Medicine Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomokatsu","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Neurology Graduate School of Medical Science Kyoto Prefectural University of Medicine Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhiro","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Internal Medicine St. Marianna University School of Medicine Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/72.3.373"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20406"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-7091-3338-5_42"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/83679"},{"key":"e_1_2_6_6_1","unstructured":"SrivastavaS NaiduS.Alexander disease. GeneReviews [Internet]. Last update: January 8 2015. GeneReviews;2015."},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6056-3"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.10.1494"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10375"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.1181"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12296","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12296","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T12:20:51Z","timestamp":1762258851000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.12296"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,11]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1002\/mdc3.12296"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.12296","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"type":"print","value":"2330-1619"},{"type":"electronic","value":"2330-1619"}],"subject":[],"published":{"date-parts":[[2016,2,11]]},"assertion":[{"value":"2015-07-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-09-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-02-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}