{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T06:37:29Z","timestamp":1787985449627,"version":"build-2784847793"},"reference-count":9,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2006,6,22]],"date-time":"2006-06-22T00:00:00Z","timestamp":1150934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2006,6,22]],"date-time":"2006-06-22T00:00:00Z","timestamp":1150934400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We describe a Japanese family in which inheritance of a novel mutation p.A100T in\n                    <jats:italic>SPG6<\/jats:italic>\n                    resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of\n                    <jats:italic>SPG6<\/jats:italic>\n                    . \u00a9 2006 Movement Disorder Society\n                  <\/jats:p>","DOI":"10.1002\/mds.21005","type":"journal-article","created":{"date-parts":[[2006,6,22]],"date-time":"2006-06-22T18:07:27Z","timestamp":1150999647000},"page":"1531-1533","source":"Crossref","is-referenced-by-count":21,"title":["Novel\n                    <i>SPG6<\/i>\n                    mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia"],"prefix":"10.1002","volume":"21","author":[{"given":"Satoshi","family":"Kaneko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshitaka","family":"Kawarai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Yip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shabnam","family":"Salehi\u2010Rad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Sato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Orlacchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Bernardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina","family":"Rogaeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"St George\u2010Hyslop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,6,22]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/378817"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20126"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0209-9"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20775"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000031423.43482.19"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.12.1898"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/15.11.937"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh377"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0013-4694(80)90263-1"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21005","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21005","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.21005","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T19:12:39Z","timestamp":1786475559000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,22]]},"references-count":9,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["10.1002\/mds.21005"],"URL":"https:\/\/doi.org\/10.1002\/mds.21005","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,22]]}}}