{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T17:28:19Z","timestamp":1793899699663,"version":"4.8.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100018693","name":"HORIZON EUROPE Framework Programme","doi-asserted-by":"publisher","award":["101080249"],"award-info":[{"award-number":["101080249"]}],"id":[{"id":"10.13039\/100018693","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["40-44600-98- 606"],"award-info":[{"award-number":["40-44600-98- 606"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Nederlandse Hersenstichting","award":["DR-2021-00390"],"award-info":[{"award-number":["DR-2021-00390"]}]},{"DOI":"10.13039\/100002243","name":"National Ataxia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000346","name":"Ataxia UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000346","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The clinimetric properties of the Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia) have only been partially explored. This study aimed to investigate its convergent validity, responsiveness, and minimal clinically important difference (MCID), as well as its discriminative ability at the earliest disease stages in different types of spinocerebellar ataxia (SCA).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Baseline and 1\u00a0year PROM-Ataxia data were obtained from three single-center cohort studies involving ataxic and pre-ataxic SCA1, SCA3, and SCA7 mutation carriers and healthy controls. Spearman correlations were assessed between PROM-Ataxia scores and the Scale for the Assessment and Rating of Ataxia, Inventory of Non-Ataxia Signs, SCA Functional Index, Cerebellar Cognitive Affective Syndrome Scale, 5-level EuroQoL 5-Dimensional Visual Analogue Scale, Patient Health Questionnaire\u22129, Unified Huntington Disease Rating Scale Part IV, and the Activities of Daily Living subscale of the Friedreich Ataxia Rating Scale. Responsiveness was evaluated using standardized response means (SRM), and MCIDs through anchor-based and distribution-based approaches.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Seventy-six mutation carriers (20 SCA1, 40 SCA3, 16 SCA7) were included at baseline, with 68 completing the 1-year follow-up visit. PROM-Ataxia scores correlated moderately to strongly with other measures (\u03c1=0.46\u20130.89,\n                      <jats:italic>p<\/jats:italic>\n                      &lt;0.001) and differentiated pre-ataxic individuals from healthy controls (\n                      <jats:italic>p<\/jats:italic>\n                      &lt;0.001). Over one year, PROM-Ataxia demonstrated a gradual average increase (+\u20093.9,\n                      <jats:italic>p<\/jats:italic>\n                      =0.048) with considerable between-subject variability of change (SD=22.0) and low responsiveness (SRM=0.17). The MCID of\u00a0the PROM-Ataxia total score was estimated at 9.8\u201312.7.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      PROM-Ataxia already distinguishes pre-ataxic SCA mutation carriers from healthy controls in physical, ADL, and mental health domains, and demonstrates strong convergent validity. Although responsiveness\n                      <jats:italic>at the group level<\/jats:italic>\n                      was somewhat limited because of large interindividual variability, 1\u00a0year follow-up scores adequately reflected the\n                      <jats:italic>individual<\/jats:italic>\n                      patient\u2019s global impression of change.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00415-026-14108-1","type":"journal-article","created":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T05:31:15Z","timestamp":1788931875000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Convergent validity, responsiveness, and meaningful within-subject change of the PROM-Ataxia in spinocerebellar ataxias"],"prefix":"10.1007","volume":"273","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2204-308X","authenticated-orcid":false,"given":"Kristofoor E.","family":"Leeuwenberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6372-0801","authenticated-orcid":false,"given":"Teije H.","family":"van Prooije","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3231-7984","authenticated-orcid":false,"given":"Colette","family":"Reniers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5735-1934","authenticated-orcid":false,"given":"Kirsten C. J.","family":"Kapteijns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0823-1287","authenticated-orcid":false,"given":"Roderick P. P. W. M.","family":"Maas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4412-1616","authenticated-orcid":false,"given":"Bart P.","family":"van de Warrenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,9]]},"reference":[{"key":"14108_CR1","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1002\/mdc3.13532","volume":"9","author":"N Malek","year":"2022","unstructured":"Malek N, Makawita C, Al-Sami Y, Aslanyan A, de Silva R (2022) A systematic review of the spectrum and prevalence of non-motor symptoms in adults with hereditary cerebellar ataxias. Mov Disord Clin Pract 9:1027\u20131039. https:\/\/doi.org\/10.1002\/mdc3.13532","journal-title":"Mov Disord Clin Pract"},{"key":"14108_CR2","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1097\/WNO0b013e3181b416de","volume":"29","author":"HL Paulson","year":"2009","unstructured":"Paulson HL (2009) The spinocerebellar ataxias. J Neuroophthalmol 29:227\u2013237. https:\/\/doi.org\/10.1097\/WNO0b013e3181b416de","journal-title":"J Neuroophthalmol"},{"key":"14108_CR3","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1038\/s41582-018-0051-6","volume":"14","author":"T Ashizawa","year":"2018","unstructured":"Ashizawa T, \u00d6z G, Paulson HL (2018) Spinocerebellar ataxias: prospects and challenges for therapy development. Nat Rev Neurol 14:590\u2013605. https:\/\/doi.org\/10.1038\/s41582-018-0051-6","journal-title":"Nat Rev Neurol"},{"key":"14108_CR4","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1007\/s12311-021-01252-9","volume":"20","author":"R Maas","year":"2021","unstructured":"Maas R, Schutter D, van de Warrenburg BPC (2021) Discordance between patient-reported outcomes and physician-rated motor symptom severity in early-to-middle-stage spinocerebellar ataxia type 3. Cerebellum 20:887\u2013895. https:\/\/doi.org\/10.1007\/s12311-021-01252-9","journal-title":"Cerebellum"},{"key":"14108_CR5","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.parkreldis.2021.08.014","volume":"91","author":"R Maas","year":"2021","unstructured":"Maas R, van de Warrenburg BPC (2021) Exploring the clinical meaningfulness of the scale for the assessment and Rating of Ataxia: A comparison of patient and physician perspectives at the item level. Parkinsonism Relat Disord 91:37\u201341. https:\/\/doi.org\/10.1016\/j.parkreldis.2021.08.014","journal-title":"Parkinsonism Relat Disord"},{"key":"14108_CR6","doi-asserted-by":"publisher","first-page":"2367","DOI":"10.1002\/mds.28670","volume":"36","author":"JD Schmahmann","year":"2021","unstructured":"Schmahmann JD, Pierce S, MacMore J, L\u2019Italien GJ (2021) Development and validation of a patient-reported outcome measure of ataxia. Mov Disord 36:2367\u20132377. https:\/\/doi.org\/10.1002\/mds.28670","journal-title":"Mov Disord"},{"issue":"5","key":"14108_CR7","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1002\/mds.30158","volume":"40","author":"AL Burt","year":"2025","unstructured":"Burt AL, L\u2019Italien G, Perlman SL et al (2025) Spinocerebellar ataxia progression measured with the patient-reported outcome measure of ataxia. Mov Disord 40(5):917\u2013927. https:\/\/doi.org\/10.1002\/mds.30158","journal-title":"Mov Disord"},{"key":"14108_CR8","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1002\/mdc3.14323","volume":"12","author":"AM Rawlings","year":"2025","unstructured":"Rawlings AM, Chuang RS, Schmahmann JD et al (2025) Longitudinal changes in patient- and clinical-reported outcomes in early spinocerebellar ataxia types 1, 2, 3, and 6 from the IDEA study. Mov Disord Clin Pract 12:638\u2013647. https:\/\/doi.org\/10.1002\/mdc3.14323","journal-title":"Mov Disord Clin Pract"},{"key":"14108_CR9","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1007\/s12311-023-01630-5","volume":"23","author":"H You","year":"2024","unstructured":"You H, Cai Q, Ouyang Z, Li X, Wu C (2024) Patient-reported outcome measure of ataxia correlates with canonical clinical assessments in Chinese spinocerebellar ataxias. Cerebellum 23:1157\u20131164. https:\/\/doi.org\/10.1007\/s12311-023-01630-5","journal-title":"Cerebellum"},{"key":"14108_CR10","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/brain\/121.4.589","volume":"121","author":"T Klockgether","year":"1998","unstructured":"Klockgether T, L\u00fcdtke R, Kramer B et al (1998) The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain 121:589\u2013600. https:\/\/doi.org\/10.1093\/brain\/121.4.589","journal-title":"Brain"},{"key":"14108_CR11","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1212\/wnl.0000000000001711","volume":"85","author":"RP Maas","year":"2015","unstructured":"Maas RP, van Gaalen J, Klockgether T, van de Warrenburg BP (2015) The preclinical stage of spinocerebellar ataxias. Neurology 85:96\u2013103. https:\/\/doi.org\/10.1212\/wnl.0000000000001711","journal-title":"Neurology"},{"key":"14108_CR12","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1136\/jmedgenet-2013-102200","volume":"51","author":"S Tezenas du Montcel","year":"2014","unstructured":"Tezenas du Montcel S, Durr A, Rakowicz M et al (2014) Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet 51:479\u2013486. https:\/\/doi.org\/10.1136\/jmedgenet-2013-102200","journal-title":"J Med Genet"},{"key":"14108_CR13","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1002\/ana.20424","volume":"57","author":"BP van de Warrenburg","year":"2005","unstructured":"van de Warrenburg BP, Hendriks H, D\u00fcrr A et al (2005) Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann Neurol 57:505\u2013512. https:\/\/doi.org\/10.1002\/ana.20424","journal-title":"Ann Neurol"},{"key":"14108_CR14","doi-asserted-by":"publisher","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","volume":"66","author":"T Schmitz-H\u00fcbsch","year":"2006","unstructured":"Schmitz-H\u00fcbsch T, du Montcel ST, Baliko L et al (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":"14108_CR15","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1007\/s12311-012-0421-3","volume":"12","author":"H Jacobi","year":"2013","unstructured":"Jacobi H, Rakowicz M, Rola R et al (2013) Inventory of non-ataxia signs (INAS): validation of a new clinical assessment instrument. Cerebellum 12:418\u2013428. https:\/\/doi.org\/10.1007\/s12311-012-0421-3","journal-title":"Cerebellum"},{"key":"14108_CR16","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1212\/01.wnl.0000219042.60538.92","volume":"71","author":"T Schmitz-H\u00fcbsch","year":"2008","unstructured":"Schmitz-H\u00fcbsch T, Giunti P, Stephenson DA et al (2008) SCA functional index: a useful compound performance measure for spinocerebellar ataxia. Neurology 71:486\u2013492. https:\/\/doi.org\/10.1212\/01.wnl.0000219042.60538.92","journal-title":"Neurology"},{"key":"14108_CR17","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1093\/brain\/awx317","volume":"141","author":"F Hoche","year":"2018","unstructured":"Hoche F, Guell X, Vangel MG, Sherman JC, Schmahmann JD (2018) The cerebellar cognitive affective\/Schmahmann syndrome scale. Brain 141:248\u2013270. https:\/\/doi.org\/10.1093\/brain\/awx317","journal-title":"Brain"},{"key":"14108_CR18","doi-asserted-by":"publisher","first-page":"p1","DOI":"10.1007\/978-3-030-47622-9","volume-title":"Methods for analysing and reporting EQ-5D data","author":"N Devlin","year":"2020","unstructured":"Devlin N, Parkin D, Janssen MF (2020) An introduction to EQ-5D instruments and their applications. Methods for analysing and reporting EQ-5D data. Springer, Cham (CH), pp p1-22"},{"key":"14108_CR19","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1046\/j.1525-1497.2001.016009606.x","volume":"16","author":"K Kroenke","year":"2001","unstructured":"Kroenke K, Spitzer RL, Williams JB (2001) The PHQ-9: validity of a brief depression severity measure. J Gen Intern Med 16:606\u2013613. https:\/\/doi.org\/10.1046\/j.1525-1497.2001.016009606.x","journal-title":"J Gen Intern Med"},{"key":"14108_CR20","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1002\/mds.870110204","volume":"11","author":"Huntington Study Group","year":"1996","unstructured":"Huntington Study Group (1996) Unified Huntington\u2019s Disease Rating Scale: reliability and consistency. Mov Disord 11:136\u2013142. https:\/\/doi.org\/10.1002\/mds.870110204","journal-title":"Mov Disord"},{"key":"14108_CR21","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1002\/mds.29788","volume":"39","author":"A Trasch\u00fctz","year":"2024","unstructured":"Trasch\u00fctz A, Fleszar Z, Hengel H et al (2024) FARS-ADL across ataxias: construct validity, sensitivity to change, and minimal important change. Mov Disord 39:965\u2013974. https:\/\/doi.org\/10.1002\/mds.29788","journal-title":"Mov Disord"},{"key":"14108_CR22","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1016\/j.jclinepi.2007.03.012","volume":"61","author":"D Revicki","year":"2008","unstructured":"Revicki D, Hays RD, Cella D, Sloan J (2008) Recommended methods for determining responsiveness and minimally important differences for patient-reported outcomes. J Clin Epidemiol 61:102\u2013109. https:\/\/doi.org\/10.1016\/j.jclinepi.2007.03.012","journal-title":"J Clin Epidemiol"},{"key":"14108_CR23","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1007\/s12311-021-01299-8","volume":"21","author":"G Bolzan","year":"2022","unstructured":"Bolzan G, Leotti VB, de Oliveira CM et al (2022) Quality of life since pre-ataxic phases of spinocerebellar ataxia type 3\/Machado-Joseph disease. Cerebellum 21:297\u2013305. https:\/\/doi.org\/10.1007\/s12311-021-01299-8","journal-title":"Cerebellum"},{"key":"14108_CR24","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1007\/s00415-022-11441-z","volume":"270","author":"H Hengel","year":"2023","unstructured":"Hengel H, Martus P, Faber J et al (2023) The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors. J Neurol 270:944\u2013952. https:\/\/doi.org\/10.1007\/s00415-022-11441-z","journal-title":"J Neurol"},{"key":"14108_CR25","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 et al (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"},{"issue":"2","key":"14108_CR26","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1002\/mds.28313","volume":"36","author":"S Perez-Lloret","year":"2020","unstructured":"Perez-Lloret S, van de Warrenburg BPC, Rossi M et al (2020) Assessment of ataxia rating scales and cerebellar functional tests: critique and recommendations. Mov Disord 36(2):283\u2013297. https:\/\/doi.org\/10.1002\/mds.28313","journal-title":"Mov Disord"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-026-14108-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-026-14108-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-026-14108-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T17:04:50Z","timestamp":1793898290000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-026-14108-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,9]]},"references-count":26,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["14108"],"URL":"https:\/\/doi.org\/10.1007\/s00415-026-14108-1","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,9]]},"assertion":[{"value":"25 April 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 August 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 August 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 September 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Kristofoor Leeuwenberg receives research funding from the SIMPATHIC project, which is financed through the European Commission\u2019s Horizon Europe Program under grant no. 101080249. Teije van Prooije receives research funding from ZonMw under grant no. 40\u201344600-98- 606. Kirsten Kapteijns receives research funding from ZonMw under grant no. 40\u201344600-98- 606. Colette Reniers receives research funding from the Nederlandse Hersenstichting under grant no. DR-2021-00390. Roderick Maas receives research funding from the Netherlands Organisation for Health Research and Development (ZonMw), National Ataxia Foundation, Ataxia UK, Friedreich\u2019s Ataxia Research Alliance, and Stichting Friedreich Ataxie Nederland. Bart van de Warrenburg receives research funding from ZonMw, Dutch Research Council, Gossweiler Foundation, Hersenstichting, and Friedreich Ataxia Research Alliance; has served on scientific advisory boards for Vico Therapeutics, Biohaven and Biogen; and receives royalties from BSL\/Springer Nature.","order":1,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All three included observational cohort studies were approved by the Medical Research Ethics Committee (MREC) Oost-Nederland. Written informed consent was provided by each participant. The studies were conducted in accordance with the guidelines and regulations of the MREC Oost-Nederland and the principles of the Declaration of Helsinki.","order":2,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"583"}}