{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T04:23:54Z","timestamp":1794025434983,"version":"4.8.0"},"reference-count":16,"publisher":"Japanese Society of Internal Medicine","issue":"21","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2026,11,1]]},"DOI":"10.2169\/internalmedicine.6892-25","type":"journal-article","created":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T22:08:49Z","timestamp":1773698929000},"page":"2918-2922","source":"Crossref","is-referenced-by-count":0,"title":["Multisystemic Involvement in Autosomal Recessive Cerebellar Ataxia Type 8 Having a Novel &lt;i&gt;SYNE1&lt;\/i&gt; Nonsense Variant"],"prefix":"10.2169","volume":"65","author":[{"given":"Shoko","family":"Hongo","sequence":"first","affiliation":[{"name":"Department of Neurology, Brain Research Institute, Niigata University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuya","family":"Konno","sequence":"additional","affiliation":[{"name":"Department of Neurology, Brain Research Institute, Niigata University, Japan"},{"name":"Horikawa Internal Medicine and Neurology Clinic, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuya","family":"Hatano","sequence":"additional","affiliation":[{"name":"Department of Neurology, Brain Research Institute, Niigata University, Japan"},{"name":"Department of Neurology, Uonuma Institute of Community Medicine, Niigata University Medical and Dental Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiko","family":"Ishihara","sequence":"additional","affiliation":[{"name":"Department of Neurology, Brain Research Institute, Niigata University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Onodera","sequence":"additional","affiliation":[{"name":"Department of Neurology, Brain Research Institute, Niigata University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Gros-Louis F, Dupr\u00e9 N, Dion P, et al. Mutations in <i>SYNE1<\/i> lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 39: 80-85, 2007.","DOI":"10.1038\/ng1927"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Zhang Q, Bethmann C, Worth NF, et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 16: 2816-2833, 2007.","DOI":"10.1093\/hmg\/ddm238"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Attali R, Warwar N, Israel A, et al. Mutation of <i>SYNE-1<\/i>, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet 18: 3462-3469, 2009.","DOI":"10.1093\/hmg\/ddp290"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Naruse H, Ishiura H, Mitsui J, et al. Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel <i>SYNE1<\/i> mutations. Amyotroph Lateral Scler Frontotemporal Degener 22: 576-578, 2021.","DOI":"10.1080\/21678421.2020.1813312"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Dupr\u00e9 N, Gros-Louis F, Chrestian N, et al. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol 62: 93-98, 2007.","DOI":"10.1002\/ana.21143"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Synofzik M, Smets K, Mallaret M, et al. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain 139: 1378-1393, 2016.","DOI":"10.1093\/brain\/aww079"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Kume K, Morino H, Komure O, et al. C-terminal mutations in <i>SYNE1<\/i> are associated with motor neuron disease in patients with SCAR8. J Neurol Sci 402: 118-120, 2019.","DOI":"10.1016\/j.jns.2019.05.001"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Renaud M, Tranchant C, Martin JVT, et al. A recessive ataxia diagnosis algorithm for the next generation sequencing era. Ann Neurol 82: 892-899, 2017.","DOI":"10.1002\/ana.25084"},{"key":"9","unstructured":"9. Laqu\u00e9rriere A, Maluenda J, Camus A, et al. Mutations in <i>CNTNAP1<\/i> and <i>ADCY6<\/i> are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet 23: 2279-2289, 2014."},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Krygier M, Kwarciany M, Wasilewska K, et al. A study in a Polish ataxia cohort indicates genetic heterogeneity and points to <i>MTCL1<\/i> as a novel candidate gene. Clin Genet 95: 415-419, 2019.","DOI":"10.1111\/cge.13489"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Indelicato E, Nachbauer W, Fauth C, et al. <i>SYNE1<\/i>-ataxia: novel genotypic and phenotypic findings. Parkinsonism Relat Disord 62: 210-214, 2019.","DOI":"10.1016\/j.parkreldis.2018.12.007"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Yunoki T, Matsuoka C, Osakada Y, et al. Two cases of autosomal recessive spinocerebellar ataxia-8 showing two novel variants of <i>SYNE1<\/i> in Japanese families. Intern Med 65: 173-177, 2026.","DOI":"10.2169\/internalmedicine.5602-25"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Duong NT, Morris GE, Lam LT, et al. Nesprins: tissue-specific expression of epsilon and other short isoforms. PLoS One 9: e94380, 2014.","DOI":"10.1371\/journal.pone.0094380"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Zhang X, Xu R, Zhu B, et al. <i>Syne-1<\/i> and <i>Syne-2<\/i> play crucial roles in myonuclear anchorage and motor neuron innervation. Development 134: 901-908, 2007.","DOI":"10.1242\/dev.02783"},{"key":"15","unstructured":"15. Dyer SC, Austine-Orimoloye O, Azov AG, et al. Ensembl 2025. Nucleic Acids Res 53: D948-D957, 2025."},{"key":"16","doi-asserted-by":"publisher","unstructured":"16. Izumi Y, Miyamoto R, Morino H, et al. Cerebellar ataxia with <i>SYNE1<\/i> mutation accompanying motor neuron disease. Neurology 80: 600-601, 2013.","DOI":"10.1212\/WNL.0b013e3182815529"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/65\/21\/65_6892-25\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T03:33:30Z","timestamp":1794022410000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/65\/21\/65_6892-25\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,11,1]]},"references-count":16,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.6892-25","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,11,1]]},"article-number":"6892-25"}}