{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T23:18:28Z","timestamp":1770679108954,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["20ek0109491h0001"],"award-info":[{"award-number":["20ek0109491h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["21ek0109491h0002"],"award-info":[{"award-number":["21ek0109491h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["22ek0109491h0003"],"award-info":[{"award-number":["22ek0109491h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["23ek0109673h0001"],"award-info":[{"award-number":["23ek0109673h0001"]}],"id":[{"id":"10.13039\/100009619","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":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in\n                    <jats:italic>KIF1C<\/jats:italic>\n                    cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole\u2010exome sequence analysis identified novel homozygous variants in the motor domain of\n                    <jats:italic>KIF1C<\/jats:italic>\n                    (NM_006612.6): c.921G&gt;A (p.Trp307Ter) and c.607C&gt;T (p.Arg203Trp). In addition to the canonical brain MRI showing leukoencephalopathy with posterior dominance and hyperintensity along the corticospinal tracts, both patients showed symmetric T2 hyperintensity confined to the lateral and dorsal columns of the cervical cord. Given the long disease durations (22 and 51\u2009years), these findings may represent late\u2010emerging or previously overlooked spinal cord involvement and broaden the neuroradiological spectrum of SPG58.\n                  <\/jats:p>","DOI":"10.1002\/acn3.70248","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T14:11:00Z","timestamp":1763129460000},"page":"387-392","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Dorsolateral Cervical Cord\n                    <scp>T2<\/scp>\n                    Hyperintensity in\n                    <scp>\n                      <i>KIF1C<\/i>\n                    <\/scp>\n                    \u2010Related Disease (Spastic Paraplegia 58): Two Long\u2010Duration Cases"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9165-0193","authenticated-orcid":false,"given":"Akihiko","family":"Mitsutake","sequence":"first","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masao","family":"Osaki","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"},{"name":"Department of Neurology Toranomon Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Matsukawa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5088-2879","authenticated-orcid":false,"given":"Miho","family":"Osako","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chisen","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled  Tokyo Japan"},{"name":"Department of Clinical Genetics Jikei University Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Ishiura","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"},{"name":"Department of Neurology Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences  Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Mitsui","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1186-8900","authenticated-orcid":false,"given":"Ryo","family":"Kurokawa","sequence":"additional","affiliation":[{"name":"Department of Radiology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harushi","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Radiology, School of Medicine Jichi Medical University  Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"},{"name":"Department of Neurology, National Center Hospital National Center of Neurology and Psychiatry (NCNP)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Goto","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"},{"name":"Department of Neurology International University of Health and Welfare Ichikawa Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[{"name":"Institute of Medical Genomics International University of Health and Welfare  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsushi","family":"Toda","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"},{"name":"Department of Neurology, National Center Hospital National Center of Neurology and Psychiatry (NCNP)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2015.02.016"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/344210"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.117143.110"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.261"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000479"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102012"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2018.02.013"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac202028g"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.7916\/tohm.v0.641"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-023-02437-1"}],"container-title":["Annals 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