{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T19:22:21Z","timestamp":1790018541433,"version":"4.0.1"},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,9,17]],"date-time":"2018-09-17T00:00:00Z","timestamp":1537142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81260194"],"award-info":[{"award-number":["81260194"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81460199"],"award-info":[{"award-number":["81460199"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mutations in the kinesin family member 5A (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">KIF<\/jats:styled-content>\n                      5A\n                    <\/jats:italic>\n                    ) gene are mainly associated with autosomal dominant spastic paraplegia 10 (\n                    <jats:styled-content style=\"fixed-case\">SPG<\/jats:styled-content>\n                    10). The additional complicated symptoms of\n                    <jats:styled-content style=\"fixed-case\">SPG<\/jats:styled-content>\n                    10 commonly include a wide spectrum. However, cerebellar ataxia is only noticed in a very few patients. Herein, we described a large autosomal dominant family, in which the affected individuals presented with progressive spastic paraparesis and marked cerebellar ataxia. Exome sequencing revealed that a novel variant in the\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">KIF<\/jats:styled-content>\n                      5A\n                    <\/jats:italic>\n                    gene might be responsible for the phenotype. The obvious cerebellar ataxia indicated that the\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">KIF<\/jats:styled-content>\n                      5A\n                    <\/jats:italic>\n                    gene should be included in the expanding gene list for spasticity\u2010ataxia spectrum.\n                  <\/jats:p>","DOI":"10.1002\/acn3.650","type":"journal-article","created":{"date-parts":[[2018,9,17]],"date-time":"2018-09-17T21:53:38Z","timestamp":1537221218000},"page":"1415-1420","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A novel\n                    <i>\n                      <scp>KIF<\/scp>\n                      5A\n                    <\/i>\n                    gene variant causes spastic paraplegia and cerebellar ataxia"],"prefix":"10.1002","volume":"5","author":[{"given":"Yusen","family":"Qiu","sequence":"first","affiliation":[{"name":"Department of Neurology Peking University People's Hospital Beijing China"},{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanshan","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University People's Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Cong","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University People's Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Xin","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University People's Hospital Beijing China"},{"name":"Department of Health, Exercise Science, and Recreation Management University of Mississippi University Mississippi"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuguang","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University People's Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University People's Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9814-2514","authenticated-orcid":false,"given":"Daojun","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University People's Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000358801"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26944"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000585"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200301026"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/344210"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24744"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13258-017-0612-x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2018.02.027"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000138731.60693.D2"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.2.284"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0180353"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000691"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.402"}],"container-title":["Annals 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