{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T18:20:40Z","timestamp":1794075640556,"version":"4.8.0"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U01 NS104326"],"award-info":[{"award-number":["U01 NS104326"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2024,7]]},"DOI":"10.1007\/s00415-024-12475-1","type":"journal-article","created":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T05:02:08Z","timestamp":1717218128000},"page":"3743-3753","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["SARA captures disparate progression and responsiveness in spinocerebellar ataxias"],"prefix":"10.1007","volume":"271","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-0602-7122","authenticated-orcid":false,"given":"Emilien","family":"Petit","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Schmitz-H\u00fcbsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Coarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"Jacobi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Heinzmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karla P.","family":"Figueroa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Perlman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher M.","family":"Gomez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George R.","family":"Wilmot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy D.","family":"Schmahmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah H.","family":"Ying","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa A.","family":"Zesiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry L.","family":"Paulson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikram G.","family":"Shakkottai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalaf O.","family":"Bushara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng-Han","family":"Kuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Geschwind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangbin","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan M.","family":"Pulst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. H.","family":"Subramony","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Ewenczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klockgether","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Ashizawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Tezenas du Montcel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,1]]},"reference":[{"key":"12475_CR1","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1186\/1750-1172-8-177","volume":"8","author":"T Ashizawa","year":"2013","unstructured":"Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo S-H, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert A, Ferguson JH, Pulst SM, Subramony S (2013) Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J Rare Dis 8:177. https:\/\/doi.org\/10.1186\/1750-1172-8-177","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"12475_CR2","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1002\/ana.26573","volume":"93","author":"J Chandrasekaran","year":"2022","unstructured":"Chandrasekaran J, Petit E, Park Y-W, Tezenas du Montcel S, Joers JM, Povazan M, Banan G, Valabregue R (2022) Clinically meaningful MR endpoints sensitive to preataxic and early ataxic stages of SCA1 and SCA3. Ann Neurol 93(4):686\u2013701","journal-title":"Ann Neurol"},{"key":"12475_CR3","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1007\/s00415-020-10306-7","volume":"269","author":"J-H Choi","year":"2022","unstructured":"Choi J-H, Shin C, Kim H-J, Jeon B (2022) Placebo response in degenerative cerebellar ataxias: a descriptive review of randomized, placebo-controlled trials. J Neurol 269:62\u201371. https:\/\/doi.org\/10.1007\/s00415-020-10306-7","journal-title":"J Neurol"},{"key":"12475_CR4","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1016\/S1474-4422(23)00068-6","volume":"22","author":"G Coarelli","year":"2023","unstructured":"Coarelli G, Coutelier M, Durr A (2023) Autosomal dominant cerebellar ataxias: new genes and progress towards treatments. Lancet Neurol 22:735\u2013749. https:\/\/doi.org\/10.1016\/S1474-4422(23)00068-6","journal-title":"Lancet Neurol"},{"key":"12475_CR5","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1016\/S1474-4422(21)00457-9","volume":"21","author":"G Coarelli","year":"2022","unstructured":"Coarelli G, Heinzmann A, Ewenczyk C, Fischer C, Chupin M, Monin M-L, Hurmic H, Calvas F, Calvas P, Goizet C, Thobois S, Anheim M, Nguyen K, Devos D, Verny C, Ricigliano VAG, Mangin J-F, Brice A, Tezenas du Montcel S, Durr A (2022) Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol 21:225\u2013233. https:\/\/doi.org\/10.1016\/S1474-4422(21)00457-9","journal-title":"Lancet Neurol"},{"key":"12475_CR6","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-09815-2","author":"A Diallo","year":"2020","unstructured":"Diallo A, Jacobi H, Tezenas du Montcel S, Klockgether T (2020) Natural history of most common spinocerebellar ataxia: a systematic review and meta-analysis. J Neurol. https:\/\/doi.org\/10.1007\/s00415-020-09815-2","journal-title":"J Neurol"},{"key":"12475_CR7","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1016\/S1474-4422(10)70183-6","volume":"9","author":"A Durr","year":"2010","unstructured":"Durr A (2010) Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 9:885\u2013894. https:\/\/doi.org\/10.1016\/S1474-4422(10)70183-6","journal-title":"Lancet Neurol"},{"key":"12475_CR8","doi-asserted-by":"publisher","DOI":"10.1101\/2023.04.21.23287817","author":"J Faber","year":"2023","unstructured":"Faber J, Berger M, Carlo W, H\u00fcbener-Schmid J, Schaprian T, Santana MM, Grobe-Einsler M, Onder D, Koyak B, Giunti P, Garcia-Moreno H, Gonzalez-Robles C, Lima M, Raposo M, Vieira Melo AR, De Almeida LP, Silva P, Pinto MM, Van De Warrenburg BP, Van Gaalen J, Jeroen De Vries J, Oz G, Joers JM, Synofzik M, Sch\u00f6ls L, Riess O, Infante J, Manrique L, Timmann D, Thieme A, Jacobi H, Reetz K, Dogan I, Onyike C, Povazan M, Schmahmann J, Ratai E-M, Schmid M, Klockgether T (2023) Stage-dependent biomarker changes in spinocerebellar ataxia type 3 (preprint). Neurology. https:\/\/doi.org\/10.1101\/2023.04.21.23287817","journal-title":"Neurology"},{"key":"12475_CR9","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1212\/WNL.0b013e31822e7ca0","volume":"77","author":"H Jacobi","year":"2011","unstructured":"Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, D\u00fcrr A, Marelli C, Globas C, Linnemann C (2011) The natural history of spinocerebellar ataxia type 1, 2, 3, and 6 A 2-year follow-up study. Neurology 77:1035\u20131041","journal-title":"Neurology"},{"key":"12475_CR10","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1016\/S1474-4422(15)00202-1","volume":"14","author":"H Jacobi","year":"2015","unstructured":"Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-H\u00fcbsch T, Sch\u00f6ls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang J-S, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T (2015) Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol 14:1101\u20131108. https:\/\/doi.org\/10.1016\/S1474-4422(15)00202-1","journal-title":"Lancet Neurol"},{"key":"12475_CR11","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1016\/S1474-4422(20)30235-0","volume":"19","author":"H Jacobi","year":"2020","unstructured":"Jacobi H, du Montcel ST, Romanzetti S, Harmuth F, Mariotti C, Nanetti L, Rakowicz M, Makowicz G, Durr A, Monin M-L, Filla A, Roca A, Sch\u00f6ls L, Hengel H, Infante J, Kang J-S, Timmann D, Casali C, Masciullo M, Baliko L, Melegh B, Nachbauer W, B\u00fcrk-Gergs K, Schulz JB, Riess O, Reetz K, Klockgether T (2020) Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study. Lancet Neurol 19:738\u2013747. https:\/\/doi.org\/10.1016\/S1474-4422(20)30235-0","journal-title":"Lancet Neurol"},{"key":"12475_CR12","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1002\/acn3.156","volume":"2","author":"M Monin","year":"2015","unstructured":"Monin M, Tezenas Du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A, Durr A (2015) Survival and severity in dominant cerebellar ataxias. Ann Clin Transl Neurol 2:202\u2013207. https:\/\/doi.org\/10.1002\/acn3.156","journal-title":"Ann Clin Transl Neurol"},{"key":"12475_CR13","doi-asserted-by":"publisher","first-page":"e2885","DOI":"10.1212\/WNL.0000000000012068","volume":"96","author":"L Peng","year":"2021","unstructured":"Peng L, Chen Z, Long Z, Liu M, Lei L, Wang C, Peng H, Shi Y, Peng Y, Deng Q, Wang S, Zou G, Wan L, Yuan H, He L, Xie Y, Tang Z, Wan N, Gong Y, Hou X, Shen L, Xia K, Li J, Chen C, Qiu R, Klockgether T, Tang B, Jiang H (2021) New model for estimation of the age at onset in spinocerebellar ataxia type 3. Neurology 96:e2885\u2013e2895. https:\/\/doi.org\/10.1212\/WNL.0000000000012068","journal-title":"Neurology"},{"key":"12475_CR14","unstructured":"R Core Team (2018) R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna, Austria"},{"key":"12475_CR15","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1159\/000358801","volume":"42","author":"L Ruano","year":"2014","unstructured":"Ruano L, Melo C, Silva MC, Coutinho P (2014) The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42:174\u2013183. https:\/\/doi.org\/10.1159\/000358801","journal-title":"Neuroepidemiology"},{"key":"12475_CR16","doi-asserted-by":"publisher","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","volume":"66","author":"T Schmitz-Hubsch","year":"2006","unstructured":"Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang J-S, Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schols L, Szymanski S, van de Warrenburg BP, Durr A, Klockgether T (2006) Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66:1717\u20131720. https:\/\/doi.org\/10.1212\/01.wnl.0000219042.60538.92","journal-title":"Neurology"},{"key":"12475_CR17","doi-asserted-by":"publisher","first-page":"2444","DOI":"10.1093\/brain\/awu174","volume":"137","author":"S Tezenas-du-Montcel","year":"2014","unstructured":"Tezenas-du-Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Sch\u00f6ls L, Mariotti C, van de Warrenburg BPC, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA), EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst S-M, Brusco A, Riess O, Brice A, Stevanin G (2014) Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain J Neurol 137:2444\u20132455. https:\/\/doi.org\/10.1093\/brain\/awu174","journal-title":"Brain J Neurol"},{"key":"12475_CR18","doi-asserted-by":"publisher","first-page":"e1836","DOI":"10.1212\/WNL.0000000000207088","volume":"100","author":"S Tezenas Du Montcel","year":"2023","unstructured":"Tezenas Du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Paulson HL, \u00d6z G, Klockgether T, Durr A, Ashizawa T, for the READISCA Consortium Collaborators (2023) Baseline clinical and blood biomarkers in patients with preataxic and early-stage disease spinocerebellar ataxia 1 and 3. Neurology 100:e1836\u2013e1848. https:\/\/doi.org\/10.1212\/WNL.0000000000207088","journal-title":"Neurology"},{"key":"12475_CR19","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26712","author":"A Trasch\u00fctz","year":"2023","unstructured":"Trasch\u00fctz A, Adarmes-G\u00f3mez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hana\u011fas\u0131 HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, M\u00fcnchau A, Renaud M, Santorelli FM, Sch\u00f6ls L, Thieme A, Vielhaber S, Van De Warrenburg BP, Zanni G, Hilgers R, PREPARE Consortium, Synofzik M (2023) Responsiveness of the scale for the assessment and rating of ataxia and natural history in 884 recessive and early onset ataxia patients. Ann Neurol. https:\/\/doi.org\/10.1002\/ana.26712","journal-title":"Ann Neurol"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12475-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-024-12475-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12475-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T06:50:51Z","timestamp":1720507851000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-024-12475-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,1]]},"references-count":19,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["12475"],"URL":"https:\/\/doi.org\/10.1007\/s00415-024-12475-1","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,1]]},"assertion":[{"value":"26 March 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 May 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 May 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 June 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Dr. Tezenas du Montcel receives research support from Biogen. Dr Subramony receives research support from National Ataxia Foundation, Biohaven, NIH, FDA, MDA, Wyck Foundation, FARA, Reata, PTC therapeutics, Retrotope, Avidity Biosciences, Fulcrum therapeutics, Reneo Pharma and AAVANTIBio, and serves on the Scientific Advisory Board for Reata, Avidity and Dyne therapeutics.B.V., serves on the Scientific Advisory Board of BrainSpec Inc. and receives research support from Biogen. Dr Ashizawa received grants from NAF and Biogen and participates in Biohaven clinical trials NCT03952806 and NCT03701399. Dr. Schmitz-H\u00fcbsch received unrestricted research grants from Celgene\/bms, speakers honoraria from Bayer, Biogen and AbbVie.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"Each study was approved by the ethics committees of the participating centres.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Written informed consent was obtained from all study participants at enrolment.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}