{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T11:39:45Z","timestamp":1779881985922,"version":"3.53.1"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100018688","name":"Korea Disease Control and Prevention Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018688","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spinocerebellar ataxia 29 (SCA29) is a rare genetic disorder characterized by early\u2010onset ataxia, gross motor delay, and infantile hypotonia, and is primarily associated with variants in the <jats:italic>ITPR1<\/jats:italic> gene. Cases of SCA29 in Asia are rarely reported, limiting our understanding of this disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A female Korean infant, demonstrating clinical features of SCA29, underwent evaluation and rehabilitation at our outpatient clinic from the age of 3\u2009months to the current age of 4\u2009years. Trio\u2010based genome sequencing tests were performed on the patient and her biological parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The infant initially presented with macrocephaly, hypotonia, and nystagmus, with nonspecific findings on initial neuroimaging. Subsequent follow\u2010up revealed gross motor delay, early onset ataxia, strabismus, and cognitive impairment. Further neuroimaging revealed atrophy of the cerebellum and vermis, and genetic analysis revealed a de novo pathogenic heterozygous c.800C&gt;T, p.Thr267Met missense mutation in the <jats:italic>ITPR1<\/jats:italic> gene (NM_001378452.1).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first reported case of SCA29 in a Korean patient, expanding the genetic and phenotypic spectrum of <jats:italic>ITPR1<\/jats:italic>\u2010related ataxias. Our case highlights the importance of recognizing early\u2010onset ataxic symptoms, central hypotonia, and gross motor delays with poor ocular fixation, cognitive deficits, and isolated cerebellar atrophy as crucial clinical indicators of SCA29.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2466","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T09:56:34Z","timestamp":1718099794000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Discovery of a de novo <i>ITPR1<\/i> missense mutation in a patient with early\u2010onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9520-860X","authenticated-orcid":false,"given":"Jae","family":"In\u00a0Lee","sequence":"first","affiliation":[{"name":"Department of Rehabilitation Medicine, College of Medicine Chungnam National University  Daejeon Republic of Korea"},{"name":"Daejeon Chungcheong Regional Medical Rehabilitation Center Chungnam National University Hospital  Daejeon Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9829-8922","authenticated-orcid":false,"given":"Ja Young","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, College of Medicine Chungnam National University  Daejeon Republic of Korea"},{"name":"Daejeon Chungcheong Regional Medical Rehabilitation Center Chungnam National University Hospital  Daejeon Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6831-1556","authenticated-orcid":false,"given":"Shin\u2010Seung","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, College of Medicine Chungnam National University  Daejeon Republic of Korea"},{"name":"Daejeon Chungcheong Regional Medical Rehabilitation Center Chungnam National University Hospital  Daejeon Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,11]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1811129115"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12783"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010017\u20108545\u20105"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pjnns.2017.06.012"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147299.80872.D1"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424\u2010010\u20100826\u20100"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4589"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u201067"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2010.09.006"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.14802\/jmd.15006"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.54"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.6.858s"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.018"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048\u2010021\u201000662\u20105"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40673\u2010019\u20100108\u20103"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv117"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23126723"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010015\u20107705\u20108"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469\u20108749.1998.tb15438.x"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010018\u20100206\u20103"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuint.2016.01.007"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37962"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2021.10.023"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311\u2010017\u20100896\u2010z"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010017\u20100672\u20107"}],"container-title":["Molecular Genetics &amp; 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