Ashizawa T, Oz G, Paulson HL. Spinocerebellar ataxias: prospects and challenges for therapy development. Nat Rev Neurol. 2018;14(10):590–605.

Article  PubMed  PubMed Central  Google Scholar 

Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nat Rev Dis Primers. 2019;5(1):24.

Article  PubMed  Google Scholar 

Scoles DR, Pulst SM. Antisense therapies for movement disorders. Mov Disord. 2019;34(8):1112–9.

Article  PubMed  Google Scholar 

Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M. The inherited cerebellar ataxias: an update. J Neurol. 2023;270(1):208–22.

Article  PubMed  Google Scholar 

Klockgether T, Ashizawa T, Brais B, et al. Paving the way toward meaningful trials in ataxias: an ataxia global initiative perspective. Mov Disord. 2022;37(6):1125–30.

Article  PubMed  Google Scholar 

Saute JAM, Jardim LB. Planning future clinical trials for Machado-Joseph disease. In: Nóbrega C, Pereira de Almeida L, editors. Polyglutamine disorders. Cham: Springer International Publishing; 2018. p. 321–48.

Chapter  Google Scholar 

Jacobi H, du Montcel ST, Bauer P, et al. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol. 2015;14(11):1101–8.

Article  PubMed  Google Scholar 

Maas RP, van Gaalen J, Klockgether T, van de Warrenburg BP. The preclinical stage of spinocerebellar ataxias. Neurology. 2015;85(1):96–103.

Article  PubMed  Google Scholar 

Globas C, du Montcel ST, Baliko L, et al. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord. 2008;23(15):2232–8.

Article  PubMed  Google Scholar 

Ilg W, Branscheidt M, Butala A, et al. Consensus paper: neurophysiological assessments of ataxias in daily practice. Cerebellum. 2018;17(5):628–53.

Article  CAS  PubMed  Google Scholar 

Luo L, Wang J, Lo RY, et al. The initial symptom and motor progression in Spinocerebellar ataxias. Cerebellum. 2017;16(3):615–22.

Article  PubMed  PubMed Central  Google Scholar 

National Ataxia Foundation (NAF). The voice of the patient: Friedreich’s ataxia. Summary report resulting from an externally led patient-focused drug development meeting. Availlable from: https://www.ataxia.org/ataxiapfdd/2017.

Rosen A, Hagen S, Trace K, Compton A. The voice of the patient: living with polglutamine spinocerebellar ataxias (SCA) and dentatorubal-pallidoluysion atrophy (DRPLA). https://www.ataxia.org/ataxiapfdd/: National Ataxia Foundation 2021.

Seabury J, Alexandrou D, Dilek N, et al. Patient-reported impact of symptoms in Friedreich ataxia. Neurology. 2023;100(8):e808–21. https://doi.org/10.1212/WNL.0000000000201598.

Article  PubMed  PubMed Central  Google Scholar 

Lowit A, Greenfield J, Cutting E, Wallis R, Hadjivassiliou M. Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study AMRC. Health Open Res. 2023;3:28. https://doi.org/10.12688/amrcopenres.13036.2.

Buckley E, Mazza C, McNeill A. A systematic review of the gait characteristics associated with cerebellar ataxia. Gait & posture. 2018;60:154–63.

Article  Google Scholar 

Milne SC, Murphy A, Georgiou-Karistianis N, Yiu EM, Delatycki MB, Corben LA. Psychometric properties of outcome measures evaluating decline in gait in cerebellar ataxia: a systematic review. Gait & posture. 2018;61:149–62.

Article  Google Scholar 

Ilg W, Timmann D. Gait ataxia--specific cerebellar influences and their rehabilitation. Mov Disord. 2013;28(11):1566–75.

Article  PubMed  Google Scholar 

Marquer A, Barbieri G, Perennou D. The assessment and treatment of postural disorders in cerebellar ataxia: a systematic review. Ann Phys Rehabil Med. 2014;57(2):67–78.

Article  CAS  PubMed  Google Scholar 

Ilg W, Fleszar Z, Schatton C, et al. Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity. Mov Disord. 2016;31(12):1891–900.

Article  PubMed  Google Scholar 

Shah VV, Rodriguez-Labrada R, Horak FB, et al. Gait variability in spinocerebellar ataxia assessed using wearable inertial sensors. Mov Disord. 2021;36(12):2922–31.

Article  PubMed  Google Scholar 

Rochester L, Galna B, Lord S, Mhiripiri D, Eglon G, Chinnery PF. Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6. Mov Disord. 2014;29(2):252–5.

Article  PubMed  Google Scholar 

Velazquez-Perez L, Rodriguez-Labrada R, Gonzalez-Garces Y, et al. Prodromal spinocerebellar ataxia type 2 subjects have quantifiable gait and postural sway deficits. Mov Disord. 2021;36(2):471–80.

Article  PubMed  Google Scholar 

Schmitz-Hubsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66(11):1717–20.

Article  CAS  PubMed  Google Scholar 

Ilg W, Muller B, Faber J, et al. Digital gait biomarkers allow to capture 1-year longitudinal change in spinocerebellar ataxia type 3. Mov Disord. 2022;37(11):2295–301.

Article  CAS  PubMed  Google Scholar 

Johnson M, Gomez C, Horak F. IDEA study 2019.

Google Scholar 

Paap BK, Roeske S, Durr A, et al. Standardized assessment of hereditary ataxia patients in clinical studies. Mov Disord Clin Pract. 2016;3(3):230–40.

Article  PubMed  PubMed Central  Google Scholar 

Ngo T, Pathirana PN, Horne MK, Corben LA, Harding IH, Szmulewicz DJ. Technological evolution in the instrumentation of ataxia severity measurement. IEEE Access. 2023;11:14006–27. https://doi.org/10.1109/ACCESS.2023.3243178.

Article  Google Scholar 

Ilg W, Christensen A, Mueller OM, Goericke SL, Giese MA, Timmann D. Effects of cerebellar lesions on working memory interacting with motor tasks of different complexities. J Neurophysiol. 2013;110(10):2337–49.

Article  PubMed  Google Scholar 

Ilg W, Schatton C, Schicks J, Giese MA, Schols L, Synofzik M. Video game-based coordinative training improves ataxia in children with degenerative ataxia. Neurology. 2012;79(20):2056–60.

Article  PubMed  Google Scholar 

Schniepp R, Wuehr M, Schlick C, et al. Increased gait variability is associated with the history of falls in patients with cerebellar ataxia. J Neurol. 2014;261(1):213–23.

Article  PubMed  Google Scholar 

Schniepp R, Wuehr M, Neuhaeusser M, et al. Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure. Mov Disord. 2012;27(1):125–31.

Article  PubMed  Google Scholar 

Schmitz-Hubsch T, Brandt AU, Pfueller C, et al. Accuracy and repeatability of two methods of gait analysis - GaitRite und Mobility Lab - in subjects with cerebellar ataxia. Gait & posture. 2016;48:194–201.

Article  Google Scholar 

Summa S, Tartarisco G, Favetta M, et al. Validation of low-cost system for gait assessment in children with ataxia. Comput Methods Programs Biomed. 2020;196:105705.

Article  CAS  PubMed  Google Scholar 

Muller B, Ilg W, Giese MA, Ludolph N. Validation of enhanced kinect sensor based motion capturing for gait assessment. PLoS One. 2017;12(4):e0175813.

Article  PubMed  PubMed Central  Google Scholar 

Ilg W, Seemann J, Giese M, et al. Real-life gait assessment in degenerative cerebellar ataxia: toward ecologically valid biomarkers. Neurology. 2020;95(9):e1199–210.

Article  CAS  PubMed  Google Scholar 

Zhou H, Nguyen H, Enriquez A, et al. Assessment of gait and balance impairment in people with spinocerebellar ataxia using wearable sensors. Neurol Sci. 2022;43(4):2589–99.

Article  PubMed  Google Scholar 

Thierfelder A, Seemann J, John N, et al. Real-life turning movements capture subtle longitudinal and preataxic changes in cerebellar ataxia. Mov Disord. 2022;37(5):1047–58.

Article  CAS  PubMed  Google Scholar 

Schmahmann JD, Pierce S, MacMore J, L'Italien GJ. Development and validation of a patient-reported outcome measure of ataxia. Mov Disord. 2021;36(10):2367–77.

Article  PubMed  Google Scholar 

Schmitz-Hubsch T, Coudert M, Giunti P, et al. Self-rated health status in spinocerebellar ataxia--results from a European multicenter study. Mov Disord. 2010;25(5):587–95.

Article  PubMed  Google Scholar 

Joyce MR, Nadkarni PA, Kronemer SI, et al. Quality of life changes following the onset of cerebellar ataxia: symptoms and concerns self-reported by ataxia patients and informants. Cerebellum. 2022;21(4):592–605.

Article  PubMed  Google Scholar 

Bolzan G, Leotti VB, de Oliveira CM, et al. Quality of life since pre-ataxic phases of spinocerebellar ataxia type 3/Machado-Joseph disease. Cerebellum. 2022;21(2):297–305.

Article  PubMed  Google Scholar 

Jacobi H, du Montcel ST, Bauer P, et al. Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias. J neurol. 2018;265(9):2040–51.

Article  PubMed  Google Scholar 

Maas R, Helmich RCG, van de Warrenburg BPC. The role of the cerebellum in degenerative ataxias and essential tremor: insights from noninvasive modulation of cerebellar activity. Mov Disord. 2020;35(2):215–27.

Article  PubMed