{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T04:05:53Z","timestamp":1784261153979,"version":"3.55.0"},"reference-count":22,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>\n                    Hereditary spastic paraplegia is characterized by progressive motor features, including spastic gait and lower limb weakness, and encompasses numerous genetic subtypes. We report a family of six siblings born to asymptomatic consanguineous parents, in which three siblings exhibited overlapping spastic paraplegia phenotypes with developmental delay. The index patient demonstrated significant lower limb weakness and spasticity despite multiple orthopedic interventions. Next-generation sequencing identified a homozygous\n                    <jats:italic toggle=\"yes\">SELENOI<\/jats:italic>\n                    c.797C\u2009&gt;\u2009T (p.Pro266Leu) variant of uncertain significance, interpreted cautiously in the context of his\n                    <jats:italic toggle=\"yes\">SPG81<\/jats:italic>\n                    -like phenotype. His older sister reportedly harbored a homozygous\n                    <jats:italic toggle=\"yes\">LAMA1<\/jats:italic>\n                    c.4579C\u2009&gt;\u2009T (p.Gln1527Ter) variant consistent with Poretti\u2013Boltshauser syndrome, explaining her cerebellar ataxia and nonprogressive course. His younger brother carried the same homozygous SELENOI variant as the index patient together with a de novo SATB2 c.860C\u2009&gt;\u2009T (p.Pro287Leu) variant of uncertain significance, which was interpreted as a possible contributor to his mixed neurodevelopmental presentation. This report highlights that siblings presenting with similar early-onset spastic gait phenotypes may have distinct underlying genetic findings, supporting the value of comprehensive genetic evaluation even within a single family.\n                  <\/jats:p>","DOI":"10.1177\/03000605261463615","type":"journal-article","created":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T14:51:46Z","timestamp":1784040706000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary spastic paraplegia in three siblings with distinct genetic mutations"],"prefix":"10.1177","volume":"54","author":[{"given":"Tae Kwon","family":"Lee","sequence":"first","affiliation":[{"name":"Yonsei University College of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung Min","family":"Kim","sequence":"additional","affiliation":[{"name":"Yonsei University College of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su Min","family":"Lee","sequence":"additional","affiliation":[{"name":"Yonsei University College of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1429-2684","authenticated-orcid":false,"given":"Sung-Rae","family":"Cho","sequence":"additional","affiliation":[{"name":"Yonsei University College of Medicine"},{"name":"Yonsei University College of Medicine"},{"name":"Department of Biohealth Engineering, Graduate School of Transdisciplinary Health Sciences, Yonsei University, Republic of Korea"},{"name":"Yonsei University College of Medicine"},{"name":"Yonsei University College of Medicine"},{"name":"Yonsei University College of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,14]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23031697"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/ptj\/67.2.206"},{"key":"e_1_3_3_4_2","article-title":"Measuring balance in the elderly: validation of an instrument","volume":"83","author":"Berg KO","year":"1992","unstructured":"Berg KO, Wood-Dauphinee SL, Williams JI, et al. Measuring balance in the elderly: validation of an instrument. Can J Public Health 1992; 83: S7\u2013S11.","journal-title":"Can J Public Health"},{"key":"e_1_3_3_5_2","first-page":"6","article-title":"The functional independence measure: a new tool for rehabilitation","volume":"1","author":"Keith RA","year":"1987","unstructured":"Keith RA, Granger CV, Hamilton BB, et al. The functional independence measure: a new tool for rehabilitation. Adv Clin Rehabil 1987; 1: 6\u201318.","journal-title":"Adv Clin Rehabil"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0895-4356(89)90065-6"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.P081620"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3501"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2022.109376"},{"key":"e_1_3_3_10_2","first-page":"547","article-title":"A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis","volume":"140","author":"Ahmed MY","year":"2017","unstructured":"Ahmed MY, Al-Khayat A, Al-Murshedi F, et al. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain 2017; 140: 547\u2013554.","journal-title":"Brain"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjnut.2023.03.023"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2024.107259"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38022"},{"key":"e_1_3_3_14_2","volume-title":"GeneReviews\u00ae","author":"Zarate YA","year":"1993","unstructured":"Zarate YA, Bosanko K, Fish J. SATB2-associated syndrome. In: Adam MP, Bick SL, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds) GeneReviews\u00ae. University of Washington, Seattle, 1993. 2017 Oct 12 (updated 2024 Jun 20), pp. 1993\u20132026."},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.211"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab386"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy285"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.19"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-013-0521-8"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.07.007"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gmg.2024.100010"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1177\/1179547620948666"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261463615","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605261463615","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261463615","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T03:49:08Z","timestamp":1784260148000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605261463615"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":22,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1177\/03000605261463615"],"URL":"https:\/\/doi.org\/10.1177\/03000605261463615","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]},"article-number":"03000605261463615"}}