{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:45:52Z","timestamp":1792086352836,"version":"4.4.0"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T00:00:00Z","timestamp":1792022400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T00:00:00Z","timestamp":1792022400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"the special fund of the National Clinical Key Specialty Construction Program, P. R. China","award":["the special fund of the National Clinical Key Specialty Construction Program, P. R. China (2024)"],"award-info":[{"award-number":["the special fund of the National Clinical Key Specialty Construction Program, P. R. China (2024)"]}]},{"name":"PUTH Clinical Key Projects","award":["BYSYZD2024007"],"award-info":[{"award-number":["BYSYZD2024007"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Increasing evidence suggests that\n                      <jats:italic>ATXN2<\/jats:italic>\n                      -related disorders represent a clinical spectrum with variable presentations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report a 70-year-old Chinese man carrying an\n                      <jats:italic>ATXN2<\/jats:italic>\n                      allele with 34 CAG repeats (20\/34 repeats). Cerebellar atrophy was incidentally noted on magnetic resonance imaging (MRI) more than ten years before symptom onset. He later developed bradykinesia and rigidity. After rapid weight loss, he developed a rapidly progressive motor syndrome with clinical upper and lower motor neuron features, followed by type II respiratory failure requiring noninvasive ventilation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      These findings support the notion that\n                      <jats:italic>ATXN2<\/jats:italic>\n                      -associated neurodegeneration may represent a clinical continuum.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10072-026-09404-7","type":"journal-article","created":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:01:19Z","timestamp":1792083679000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["From incidental cerebellar atrophy to progressive motor syndrome: a case within the spectrum of ATXN2-associated neurodegeneration"],"prefix":"10.1007","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1764-4537","authenticated-orcid":false,"given":"Xin","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinran","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailin","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongsheng","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,15]]},"reference":[{"issue":"6","key":"9404_CR1","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1038\/s41419-024-06812-5","volume":"15","author":"RG Costa","year":"2024","unstructured":"Costa RG, Concei\u00e7\u00e3o A, Matos CA, N\u00f3brega C (2024) The polyglutamine protein ATXN2: from its molecular functions to its involvement in disease. Cell Death Dis 15(6):415","journal-title":"Cell Death Dis"},{"issue":"8","key":"9404_CR2","doi-asserted-by":"publisher","first-page":"2671","DOI":"10.1093\/brain\/awac167","volume":"145","author":"JD Glass","year":"2022","unstructured":"Glass JD, Dewan R, Ding J, Gibbs JR, Dalgard C, Keagle PJ et al (2022) ATXN2 intermediate expansions in amyotrophic lateral sclerosis. Brain 145(8):2671\u20132676","journal-title":"Brain"},{"issue":"4","key":"9404_CR3","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1097\/WCO.0000000000000959","volume":"34","author":"JM Laffita-Mesa","year":"2021","unstructured":"Laffita-Mesa JM, Paucar M, Svenningsson P (2021) Ataxin-2 gene: a powerful modulator of neurological disorders. Curr Opin Neurol 34(4):578\u2013588","journal-title":"Curr Opin Neurol"},{"issue":"1","key":"9404_CR4","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200225","volume":"11","author":"SM Pulst","year":"2025","unstructured":"Pulst SM (2025) Spinocerebellar ataxia type 2: a review and personal perspective. Neurol Genet 11(1):e200225","journal-title":"Neurol Genet"},{"issue":"9","key":"9404_CR5","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1002\/acn3.437","volume":"4","author":"A Antenora","year":"2017","unstructured":"Antenora A, Rinaldi C, Roca A, Pane C, Lieto M, Sacc\u00e0 F et al (2017) The Multiple Faces of Spinocerebellar Ataxia type 2. Ann Clin Transl Neurol 4(9):687\u2013695","journal-title":"Ann Clin Transl Neurol"},{"key":"9404_CR6","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines12020356","author":"D Borrego-Hern\u00e1ndez","year":"2024","unstructured":"Borrego-Hern\u00e1ndez D, V\u00e1zquez-Costa JF, Dom\u00ednguez-Rubio R, Exp\u00f3sito-Bl\u00e1zquez L, Aller E, Padr\u00f3-Miquel A et al (2024) Intermediate repeat expansion in the ATXN2 gene as a risk factor in the ALS and FTD Spanish population. Biomedicines. https:\/\/doi.org\/10.3390\/biomedicines12020356","journal-title":"Biomedicines"},{"issue":"9","key":"9404_CR7","doi-asserted-by":"publisher","first-page":"4367","DOI":"10.1007\/s10072-024-07521-9","volume":"45","author":"V Ferrari","year":"2024","unstructured":"Ferrari V, Conti M, Bovenzi R, Cerroni R, Pierantozzi M, Mercuri NB et al (2024) Rare association between spinocerebellar ataxia and amyotrophic lateral sclerosis: a case series. Neurol Sci 45(9):4367\u20134371","journal-title":"Neurol Sci"},{"issue":"7","key":"9404_CR8","doi-asserted-by":"publisher","first-page":"848","DOI":"10.1002\/mds.20090","volume":"19","author":"J Infante","year":"2004","unstructured":"Infante J, Berciano J, Volpini V, Corral J, Polo JM, Pascual J et al (2004) Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease. Mov Disord 19(7):848\u201352","journal-title":"Mov Disord"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-026-09404-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-026-09404-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-026-09404-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:01:20Z","timestamp":1792083680000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-026-09404-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,15]]},"references-count":8,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2026,11]]}},"alternative-id":["9404"],"URL":"https:\/\/doi.org\/10.1007\/s10072-026-09404-7","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,15]]},"assertion":[{"value":"8 May 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 September 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 October 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The Ethics Committee of Peking University Third Hospital approved the conduct of this.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient and his caregiver involved in the study.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"857"}}