{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:18:43Z","timestamp":1790835523753,"version":"4.1.0"},"reference-count":51,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T00:00:00Z","timestamp":1647388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T00:00:00Z","timestamp":1647388800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100001962","name":"A-T Children's Project","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001962","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University of Pennsylvania Orphan Disease Center"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"DOI":"10.1007\/s12311-022-01385-5","type":"journal-article","created":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T12:15:43Z","timestamp":1647432943000},"page":"261-271","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Real-life Wrist Movement Patterns Capture Motor Impairment in Individuals with Ataxia-Telangiectasia"],"prefix":"10.1007","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8741-0621","authenticated-orcid":false,"given":"Anoopum S.","family":"Gupta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna C.","family":"Luddy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nergis C.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Reiling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer Karlin","family":"Thornton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,3,16]]},"reference":[{"key":"1385_CR1","unstructured":"Cavazzoni, P. The Path forward: advancing treatments and cures for neurodegenerative diseases. https:\/\/www.fda.gov\/news-events\/congressional-testimony\/path-forward-advancing-treatments-and-cures-neurodegenerative-diseases-07292021#footnote1Footnote  reference is out of range._sde0aq9 (2021)."},{"key":"1385_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-016-0543-7","volume":"11","author":"C Rothblum-Oviatt","year":"2016","unstructured":"Rothblum-Oviatt C, et al. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11:1\u201321.","journal-title":"Orphanet J Rare Dis"},{"key":"1385_CR3","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1093\/bmb\/ldm012","volume":"81\u201382","author":"MF Lavin","year":"2007","unstructured":"Lavin MF, Gueven N, Bottle S, Gatti RA. Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. Br Med Bull. 2007;81\u201382:129\u201347.","journal-title":"Br Med Bull"},{"key":"1385_CR4","doi-asserted-by":"crossref","unstructured":"Nissenkorn, A. & Ben-Zeev, B. ataxia telangiectasia. vol. 132 (Elsevier B.V., 2015).","DOI":"10.1016\/B978-0-444-62702-5.00014-7"},{"key":"1385_CR5","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/S1071-9091(98)80007-7","volume":"5","author":"TO Crawford","year":"1998","unstructured":"Crawford TO. Ataxia telangiectasia. Semin Pediatr Neurol. 1998;5:287\u201394.","journal-title":"Semin Pediatr Neurol"},{"key":"1385_CR6","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1146\/annurev-neuro-070918-050501","volume":"42","author":"CF Bennett","year":"2019","unstructured":"Bennett CF, Krainer AR, Cleveland DW. Antisense oligonucleotide therapies for neurodegenerative diseases. Annu Rev Neurosci. 2019;42:385\u2013406.","journal-title":"Annu Rev Neurosci"},{"key":"1385_CR7","doi-asserted-by":"publisher","first-page":"1820","DOI":"10.1002\/mds.22681","volume":"24","author":"JD Schmahmann","year":"2009","unstructured":"Schmahmann JD, Gardner R, MacMore J, Vangel MG. Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS. Mov Disord. 2009;24:1820\u20138.","journal-title":"Mov Disord"},{"key":"1385_CR8","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, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66:1717\u201320.","journal-title":"Neurology"},{"key":"1385_CR9","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1080\/21678707.2018.1449638","volume":"6","author":"C Rummey","year":"2018","unstructured":"Rummey C, Kichula E, Lynch DR. Clinical trial design for Friedreich ataxia\u2014where are we now and what do we need? Expert Opin Orphan Drugs. 2018;6:219\u201330.","journal-title":"Expert Opin Orphan Drugs"},{"key":"1385_CR10","doi-asserted-by":"publisher","first-page":"1543","DOI":"10.1002\/acn3.51370","volume":"8","author":"SM Brooker","year":"2021","unstructured":"Brooker SM, Edamakanti CR, Akasha SM, Kuo SH, Opal P. Spinocerebellar ataxia clinical trials: opportunities and challenges. Annals of Clinical and Translational Neurology. 2021;8:1543\u201356.","journal-title":"Annals of Clinical and Translational Neurology"},{"key":"1385_CR11","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1111\/dmcn.12369","volume":"56","author":"R Brandsma","year":"2014","unstructured":"Brandsma R, et al. Ataxia rating scales are age-dependent in healthy children. Dev Med Child Neurol. 2014;56:556\u201363.","journal-title":"Dev Med Child Neurol"},{"key":"1385_CR12","first-page":"4","volume":"8","author":"AG Shaikh","year":"2013","unstructured":"Shaikh AG, Zee DS, Mandir AS, Lederman HM, Crawford TO. Disorders of upper limb movements in ataxia- telangiectasia. 2013;8:4\u20139.","journal-title":"Disorders of upper limb movements in ataxia- telangiectasia"},{"key":"1385_CR13","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.clinbiomech.2018.10.007","volume":"60","author":"O Martinez-Manzanera","year":"2018","unstructured":"Martinez-Manzanera O, et al. Instrumented finger-to-nose test classification in children with ataxia or developmental coordination disorder and controls. Clin Biomech. 2018;60:51\u20139.","journal-title":"Clin Biomech"},{"key":"1385_CR14","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-021-01247-6","author":"B Oubre","year":"2021","unstructured":"Oubre B, et al. Decomposition of reaching movements enables detection and measurement of ataxia. Cerebellum. 2021. https:\/\/doi.org\/10.1007\/s12311-021-01247-6.","journal-title":"Cerebellum"},{"key":"1385_CR15","doi-asserted-by":"crossref","unstructured":"Knudson, K. C. & Gupta, A. S. Assessing cerebellar disorders with wearable inertial sensor data using time-frequency and autoregressive hidden MARKOV model Approaches. (2021).","DOI":"10.3390\/s22239454"},{"key":"1385_CR16","doi-asserted-by":"crossref","unstructured":"LeMoyne, R. et al. Wearable body and wireless inertial sensors for machine learning classification of gait for people with Friedreich\u2019s ataxia. BSN 2016\u201413th Annual Body Sensor Networks Conference 147\u2013151 (2016).","DOI":"10.1109\/BSN.2016.7516249"},{"key":"1385_CR17","doi-asserted-by":"publisher","first-page":"N105","DOI":"10.1088\/0967-3334\/37\/11\/N105","volume":"37","author":"A Hickey","year":"2016","unstructured":"Hickey A, et al. Validity of a wearable accelerometer to quantify gait in spinocerebellar ataxia type 6. Physiol Meas. 2016;37:N105\u201317.","journal-title":"Physiol Meas"},{"key":"1385_CR18","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1111\/ncn3.12174","volume":"6","author":"K Terayama","year":"2018","unstructured":"Terayama K, Sakakibara R, Ogawa A. Wearable gait sensors to measure ataxia due to spinocerebellar degeneration. Neurol Clin Neurosci. 2018;6:9\u201312.","journal-title":"Neurol Clin Neurosci"},{"key":"1385_CR19","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28740","author":"VV Shah","year":"2021","unstructured":"Shah VV, et al. Gait variability in spinocerebellar ataxia assessed using wearable inertial sensors. Mov Disord. 2021. https:\/\/doi.org\/10.1002\/mds.28740.","journal-title":"Mov Disord"},{"key":"1385_CR20","doi-asserted-by":"publisher","first-page":"e1199","DOI":"10.1212\/WNL.0000000000010176","volume":"95","author":"W Ilg","year":"2020","unstructured":"Ilg W, et al. Real-life gait assessment in degenerative cerebellar ataxia: toward ecologically valid biomarkers. Neurology. 2020;95:e1199\u2013210.","journal-title":"Neurology"},{"key":"1385_CR21","doi-asserted-by":"crossref","unstructured":"Holmes, G. The Cerebellum of Man. (1939).","DOI":"10.1093\/brain\/62.1.1"},{"key":"1385_CR22","first-page":"1013","volume":"10","author":"J Babinski","year":"1902","unstructured":"Babinski J. Sur le r\u00f4le du cervelet dans les actes volitionnels n\u00e9cessitant une succession rapide de mouvements (diadococin\u00e9sie). Rev Neurol. 1902;10:1013\u20135.","journal-title":"Rev Neurol"},{"key":"1385_CR23","doi-asserted-by":"publisher","first-page":"1214","DOI":"10.1152\/jn.1977.40.5.1214","volume":"40","author":"T Vilis","year":"1977","unstructured":"Vilis T, Hore J. Effects of changes in mechanical state of limb on cerebellar intention tremor. J Neurophysiol. 1977;40:1214\u201324.","journal-title":"J Neurophysiol"},{"key":"1385_CR24","doi-asserted-by":"publisher","first-page":"1844","DOI":"10.1152\/jn.00787.2002","volume":"89","author":"SM Morton","year":"2003","unstructured":"Morton SM, Bastian AJ. Relative contributions of balance and voluntary leg-coordination deficits to cerebellar gait ataxia. J Neurophysiol. 2003;89:1844\u201356.","journal-title":"J Neurophysiol"},{"key":"1385_CR25","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-021-01306-y","author":"NC Khan","year":"2021","unstructured":"Khan NC, Pandey V, Gajos KZ, Gupta AS. Free-living motor activity monitoring in ataxia-telangiectasia. Cerebellum. 2021. https:\/\/doi.org\/10.1007\/s12311-021-01306-y.","journal-title":"Cerebellum"},{"key":"1385_CR26","doi-asserted-by":"publisher","first-page":"690","DOI":"10.1111\/dmcn.13052","volume":"58","author":"TJ Jackson","year":"2016","unstructured":"Jackson TJ, et al. Longitudinal analysis of the neurological features of ataxia-telangiectasia. Dev Med Child Neurol. 2016;58:690\u20137.","journal-title":"Dev Med Child Neurol"},{"key":"1385_CR27","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1017\/S0012162206001745","volume":"48","author":"UG Narayanan","year":"2006","unstructured":"Narayanan UG, et al. Initial development and validation of the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD). Dev Med Child Neurol. 2006;48:804\u201312.","journal-title":"Dev Med Child Neurol"},{"key":"1385_CR28","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1109\/10.554760","volume":"44","author":"CV Bouten","year":"1997","unstructured":"Bouten CV, Koekkoek KT, Verduin M, Kodde R, Janssen JD. A triaxial accelerometer and portable data processing unit for the assessment of daily physical activity. IEEE Trans Biomed Eng. 1997;44:136\u201347.","journal-title":"IEEE Trans Biomed Eng"},{"key":"1385_CR29","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1371\/journal.pone.0160644","volume":"11","author":"J Bai","year":"2016","unstructured":"Bai J, et al. An activity index for raw accelerometry data and its comparison with other activity metrics. PLoS ONE. 2016;11:1\u201314.","journal-title":"PLoS ONE"},{"key":"1385_CR30","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1177\/001872089303500304","volume":"35","author":"N Walker","year":"1993","unstructured":"Walker N, Meyer DE, Smelcer JB. Spatial and temporal characteristics of rapid cursor-positioning movements with electromechanical mice in human-computer interaction. Hum Factors. 1993;35:431\u201358.","journal-title":"Hum Factors"},{"key":"1385_CR31","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1037\/0033-2909.86.2.420","volume":"86","author":"PE Shrout","year":"1979","unstructured":"Shrout PE, Fleiss JL. Intraclass correlations: Uses in assessing rater reliability. Psychol Bull. 1979;86:420\u20138.","journal-title":"Psychol Bull"},{"key":"1385_CR32","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","volume":"57","author":"Y Benjamini","year":"1995","unstructured":"Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc. 1995;57:289\u2013300.","journal-title":"J R Stat Soc"},{"key":"1385_CR33","doi-asserted-by":"publisher","unstructured":"Miranda, J.G.V., Daneault, JF., Vergara-Diaz, G. et al. Complex Upper-Limb Movements Are Generated by Combining Motor Primitives that Scale with the Movement Size. Sci Rep 8, 12918 (2018). https:\/\/doi.org\/10.1038\/s41598-018-29470-y","DOI":"10.1038\/s41598-018-29470-y"},{"key":"1385_CR34","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1016\/0306-4522(82)90277-9","volume":"7","author":"P Viviani","year":"1982","unstructured":"Viviani P, Terzuolo C. Trajectory determines movement dynamics. Neuroscience. 1982;7:431\u20137.","journal-title":"Neuroscience"},{"key":"1385_CR35","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/0001-6918(83)90027-6","volume":"54","author":"F Lacquaniti","year":"1983","unstructured":"Lacquaniti F, Terzuolo C, Viviani P. The law relating the kinematic and figural aspects of drawing movements. Acta Psychol. 1983;54:115\u201330.","journal-title":"Acta Psychol"},{"key":"1385_CR36","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1037\/0096-1523.21.1.32","volume":"21","author":"P Viviani","year":"1995","unstructured":"Viviani P, Flash T. Minimum-jerk, two-thirds power law, and isochrony: converging approaches to movement planning. J Exp Psychol Hum Percept Perform. 1995;21:32\u201353.","journal-title":"J Exp Psychol Hum Percept Perform"},{"key":"1385_CR37","doi-asserted-by":"publisher","first-page":"8201","DOI":"10.1523\/JNEUROSCI.22-18-08201.2002","volume":"22","author":"MJE Richardson","year":"2002","unstructured":"Richardson MJE, Flash T. Comparing smooth arm movements with the two-thirds power law and the related segmented-control hypothesis. J Neurosci. 2002;22:8201\u201311.","journal-title":"J Neurosci"},{"key":"1385_CR38","first-page":"201","volume":"15","author":"P Viviani","year":"1986","unstructured":"Viviani P. Do units of motor action really exist? Experimental Brain Research Series. 1986;15:201\u201316.","journal-title":"Experimental Brain Research Series"},{"key":"1385_CR39","doi-asserted-by":"publisher","first-page":"660","DOI":"10.1016\/j.conb.2005.10.011","volume":"15","author":"T Flash","year":"2005","unstructured":"Flash T, Hochner B. Motor primitives in vertebrates and invertebrates. Curr Opin Neurobiol. 2005;15:660\u20136.","journal-title":"Curr Opin Neurobiol"},{"key":"1385_CR40","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1007\/s00422-012-0527-1","volume":"106","author":"N Hogan","year":"2012","unstructured":"Hogan N, Sternad D. Dynamic primitives of motor behavior. Biol Cybern. 2012;106:727\u201339.","journal-title":"Biol Cybern"},{"key":"1385_CR41","doi-asserted-by":"publisher","first-page":"1688","DOI":"10.1523\/JNEUROSCI.05-07-01688.1985","volume":"5","author":"T Flash","year":"1985","unstructured":"Flash T, Hogan N. The coordination of arm movements: an experimentally confirmed mathematical model. J Neurosci. 1985;5:1688\u2013703.","journal-title":"J Neurosci"},{"key":"1385_CR42","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1113\/jphysiol.1993.sp019837","volume":"469","author":"AB Vallbo","year":"1993","unstructured":"Vallbo AB, Wessberg J. Organization of motor output in slow finger movements in man. J Physiol. 1993;469:673\u201391.","journal-title":"J Physiol"},{"key":"1385_CR43","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1080\/14640748308402133","volume":"35","author":"ER Crossman","year":"1983","unstructured":"Crossman ER, Goodeve PJ. Feedback control of hand-movement and Fitts\u2019 Law. Q J Exp Psychol A. 1983;35:251\u201378.","journal-title":"Q J Exp Psychol A"},{"key":"1385_CR44","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1037\/0096-1523.11.6.828","volume":"11","author":"P Viviani","year":"1985","unstructured":"Viviani P, Cenzato M. Segmentation and coupling in complex movements. J Exp Psychol Hum Percept Perform. 1985;11:828\u201345.","journal-title":"J Exp Psychol Hum Percept Perform"},{"key":"1385_CR45","doi-asserted-by":"crossref","unstructured":"Walker, N., Philbin, D. A. & Fisk, A. D. Age-related differences in movement control: adjusting submovement structure to optimize performance. J. Gerontol. B Psychol. Sci. Soc. Sci. 52B, P40\u2013P53 (1997).","DOI":"10.1093\/geronb\/52B.1.P40"},{"key":"1385_CR46","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1080\/00222895.1991.9942039","volume":"23","author":"C von Hofsten","year":"1991","unstructured":"von Hofsten C. Structuring of early reaching movements: a longitudinal study. J Mot Behav. 1991;23:280\u201392.","journal-title":"J Mot Behav"},{"key":"1385_CR47","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1123\/mcj.8.4.472","volume":"8","author":"B Rohrer","year":"2004","unstructured":"Rohrer B, et al. Submovements grow larger, fewer, and more blended during stroke recovery. Mot Control. 2004;8:472\u201383.","journal-title":"Mot Control"},{"key":"1385_CR48","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1007\/s00422-003-0428-4","volume":"89","author":"B Rohrer","year":"2003","unstructured":"Rohrer B, Hogan N. Avoiding spurious submovement decompositions: a globally optimal algorithm. Biol Cybern. 2003;89:190\u20139.","journal-title":"Biol Cybern"},{"key":"1385_CR49","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1007\/s00221-003-1799-4","volume":"156","author":"R Sosnik","year":"2004","unstructured":"Sosnik R, Hauptmann B, Karni A, Flash T. When practice leads to co-articulation: the evolution of geometrically defined movement primitives. Exp Brain Res. 2004;156:422\u201338.","journal-title":"Exp Brain Res"},{"key":"1385_CR50","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1136\/jnnp.38.12.1163","volume":"38","author":"M Hallett","year":"1975","unstructured":"Hallett M, Shahani BT, Young RR. EMG analysis of patients with cerebellar deficits. J Neurol Neurosurg Psychiatry. 1975;38:1163\u20139.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1385_CR51","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1152\/jn.1996.76.1.492","volume":"76","author":"AJ Bastian","year":"1996","unstructured":"Bastian AJ, Martin TA, Keating JG, Thach WT. Cerebellar ataxia: abnormal control of interaction torques across multiple joints. J Neurophysiol. 1996;76:492\u2013509.","journal-title":"J Neurophysiol"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-022-01385-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-022-01385-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-022-01385-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T19:32:43Z","timestamp":1744140763000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-022-01385-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,16]]},"references-count":51,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,4]]}},"alternative-id":["1385"],"URL":"https:\/\/doi.org\/10.1007\/s12311-022-01385-5","relation":{},"ISSN":["1473-4230"],"issn-type":[{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,16]]},"assertion":[{"value":"21 February 2022","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 March 2022","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent and assent were obtained from all participants prior to participation, and the study was approved by the Partners Healthcare Research Committee Institutional Review Board (No. 2019P002752).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}