{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:42:59Z","timestamp":1787240579080,"version":"build-2736575974"},"reference-count":15,"publisher":"Japanese Society of Internal Medicine","issue":"13","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2026,7,1]]},"DOI":"10.2169\/internalmedicine.6369-25","type":"journal-article","created":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T22:07:14Z","timestamp":1762985234000},"page":"1810-1814","source":"Crossref","is-referenced-by-count":3,"title":["Spinocerebellar Ataxia Type 3 Accompanied by Amyotrophic Lateral Sclerosis: A Case Report and Comprehensive Literature Review"],"prefix":"10.2169","volume":"65","author":[{"given":"Masato","family":"Takubo","sequence":"first","affiliation":[{"name":"Tohoku University School of Medicine, Japan"},{"name":"Department of Neurology, Tohoku University Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tohoku University Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chihiro","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tohoku University Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kensuke","family":"Ikeda","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoto","family":"Sugeno","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Warita","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tohoku University Hospital, Japan"},{"name":"Department of Neurology, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nat Rev Dis Primer 5: 24, 2019.","DOI":"10.1038\/s41572-019-0074-3"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Paulson HL, Shakkottai VG, Clark HB, Orr HT. Polyglutamine spinocerebellar ataxias: from genes to potential treatments. Nat Rev Neurosci 18: 613-626, 2017.","DOI":"10.1038\/nrn.2017.92"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Oskarsson B, Gendron TF, Staff NP. Amyotrophic lateral sclerosis: an update for 2018. Mayo Clin Proc 93: 1617-1628, 2018.","DOI":"10.1016\/j.mayocp.2018.04.007"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Costa J, Swash M, de Carvalho M. Awaji criteria for the diagnosis of amyotrophic lateral sclerosis: a systematic review. Arch Neurol 69: 1410-1416, 2012.","DOI":"10.1001\/archneurol.2012.254"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1: 293-299, 2000.","DOI":"10.1080\/146608200300079536"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Urushitani M, Warita H, Atsuta N, et al. The clinical practice guideline for the management of amyotrophic lateral sclerosis in Japan-update 2023. Rinsho Shinkeigaku (Clin Neurol) 64: 252-271, 2024.","DOI":"10.5692\/clinicalneurol.cn-001946"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Pinto S, De Carvalho M. Machado-Joseph disease presenting as motor neuron disease. Amyotroph Lateral Scler 9: 188-191, 2008.","DOI":"10.1080\/17482960701702603"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Pedroso JL, de Resende Pinto WB, de Souza PV, Andriotti C, Stavale JN, Barsottini OG. Anterior horn degeneration in Machado-Joseph disease. J Neurol Sci 368: 290-291, 2016.","DOI":"10.1016\/j.jns.2016.07.037"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Jaques CS, Pedroso JL, Rocha AJD, Pinto WBVDR, Oliveira ASB, Barsottini OGP. Spinocerebellar ataxia type 3 presenting simultaneously with motor neuron disease and cerebellar ataxia. Arq Neuropsiquiatr 79: 851-852, 2021.","DOI":"10.1590\/0004-282x-anp-2020-0189"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Eki A, Sugiyama A, Shibuya K, et al. Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report. BMC Neurol 24: 434, 2024.","DOI":"10.1186\/s12883-024-03948-x"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Tan CF, Yamada M, Toyoshima Y, et al. Selective occurrence of TDP-43-immunoreactive inclusions in the lower motor neurons in Machado-Joseph disease. Acta Neuropathol (Berl) 118: 553-560, 2009.","DOI":"10.1007\/s00401-009-0552-x"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Ferrari V, Conti M, Bovenzi R, et al. Rare association between spinocerebellar ataxia and amyotrophic lateral sclerosis: a case series. Neurol Sci 45: 4367-4371, 2024.","DOI":"10.1007\/s10072-024-07521-9"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Ohara S, Iwahashi T, Oide T, et al. Spinocerebellar ataxia type 6 with motor neuron loss: a follow-up autopsy report. J Neurol 249: 633-635, 2002.","DOI":"10.1007\/s004150200078"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Kobayashi H, Abe K, Matsuura T, et al. Expansion of intronic GGCCTG hexanucleotide repeat in <i>NOP56<\/i> causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet 89: 121-130, 2011.","DOI":"10.1016\/j.ajhg.2011.05.015"},{"key":"15","unstructured":"15. Oki R, Izumi Y, Fujita K, et al. Efficacy and safety of ultrahigh-dose methylcobalamin in early-stage amyotrophic lateral sclerosis: a randomized clinical trial. JAMA Neurol 79: 575-583, 2022."}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/65\/13\/65_6369-25\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T03:29:36Z","timestamp":1783135776000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/65\/13\/65_6369-25\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,1]]},"references-count":15,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.6369-25","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,1]]},"article-number":"6369-25"}}