Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nat Rev Dis Primers. 2019;5:24. https://doi.org/10.1038/s41572-019-0074-3.
Pulst S-M, Nechiporuk A, Nechiporuk T, Gispert S, Chen X-N, Lopes-Cendes I et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269–76. Available from: https://www.nature.com/articles/ng1196-269
Article PubMed CAS Google Scholar
Velázquez-Pérez L, Rodríguez-Labrada R, Cruz-Rivas EM, Fernández-Ruiz J, Vaca-Palomares I, Lilia-Campins J, et al. Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease. Cerebellum. 2014;13:568–79.
Velázquez-Pérez L, Rodríguez-Labrada R, Canales-Ochoa N, Montero JM, Sánchez-Cruz G, Aguilera-Rodríguez R et al. Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study. Lancet Neurol 2014;13:482–9. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1474442214700274
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM. Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges. Mov Disord. 2017;32:708–18. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28256108
Maas RPPWM, van Gaalen J, Klockgether T, van de Warrenburg BPC. The preclinical stage of spinocerebellar ataxias. Neurology. 2015;85:96–103. Available from: https://www.neurology.org/lookup/doi/https://doi.org/10.1212/WNL.0000000000001711
Perez-Lloret S, van de Warrenburg B, Rossi M, Rodríguez‐Blázquez C, Zesiewicz T, Saute JAM et al. Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations. Mov Disord 2021;36:283–97. Available from: https://onlinelibrary.wiley.com/doi/https://doi.org/10.1002/mds.28313
Rodríguez-Labrada R, Velázquez-Pérez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J et al. Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials. Mov Disord 2016;31:570–8. Available from: https://onlinelibrary.wiley.com/doi/https://doi.org/10.1002/mds.26532
Velázquez-Pérez L, Rodríguez-Labrada R, Torres-Vega R, Ortega-Sánchez R, Medrano-Montero J, González-Piña R et al. Progression of corticospinal tract dysfunction in pre-ataxic spinocerebellar ataxia type 2: A two-years follow-up TMS study. Clin Neurophysiol 2018;129:895–900. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1388245718300920
Velázquez-Perez L, Rodríguez-Labrada R, Canales-Ochoa N, Sanchez-Cruz G, Fernandez-Ruiz J, Montero JM, et al. Progression markers of spinocerebellar ataxia 2. A twenty years neurophysiological follow up study. J Neurol Sci. 2010;290:22–6.
Velázquez Pérez L, Cruz GS, Santos Falcón N, Enrique Almaguer Mederos L, Escalona Batallan K, Rodríguez Labrada R, et al. Molecular epidemiology of spinocerebellar ataxias in Cuba : insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009;454:157–60.
Guyatt GH, Feeny DH, Patrick DL. Measuring Health-Related Quality of Life. Ann Intern Med 1993;118:622–9. Available from: https://www.acpjournals.org/doi/https://doi.org/10.7326/0003-4819-118-8-199304150-00009
Article PubMed CAS Google Scholar
Seemann J, Daghsen L, Cazier M, Lamy JC, Welter ML, Giese MA, et al. Digital gait measures capture 1-year progression in early-stage spinocerebellar ataxia type 2. Mov Disord. 2024;39:788–97.
Article PubMed CAS Google Scholar
Ilg W, Müller B, Faber J, van Gaalen J, Hengel H, Vogt IR, et al. Digital gait biomarkers allow to capture 1-year longitudinal change in spinocerebellar ataxia type 3. Mov Disord. 2022;37:2295–301.
Article PubMed CAS Google Scholar
Seemann J, Beyme T, John N, Harmuth F, Giese M, Schöls L et al. Capture of Longitudinal Change in Real-Life Walking in Cerebellar Ataxia Increases Patient Relevance and Effect Size. Mov Disord 2025 Available from: https://movementdisorders.onlinelibrary.wiley.com/doi/https://doi.org/10.1002/mds.30230
Velázquez-Pérez L, Medrano-Montero J, Rodríguez-Labrada R, Canales-Ochoa N, Campins Alí J, Carrillo Rodes FJ, et al. Hereditary ataxias in cuba: a nationwide epidemiological and clinical study in 1001 patients. Cerebellum. 2020;19:252–64.
Schmitz-Hübsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C et al. Scale for the assessment and rating of ataxia. Neurology 2006;66:1717–20. Available from: https://www.neurology.org/lookup/doi/https://doi.org/10.1212/01.wnl.0000219042.60538.92
Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology. 2008;71:982–9.
Laurie King MM. Mobility Lab to Assess Balance and Gait with Synchronized Body-worn Sensors. J Bioeng Biomed Sci 2013;2. Available from: https://www.omicsonline.org/mobility-lab-to-assess-balance-and-gait-with-synchronized-body-worn-sensors-2155-9538.S1-007.php?aid=3832
Shah VV, Rodriguez-Labrada R, Horak FB, McNames J, Casey H, Hansson Floyd K et al. Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors. Mov Disord 2021;36:2922–31. Available from: https://movementdisorders.onlinelibrary.wiley.com/doi/https://doi.org/10.1002/mds.28740
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier J-M et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:285–91. Available from: https://www.nature.com/articles/ng1196-285
Article PubMed CAS Google Scholar
Ilg W, Milne S, Schmitz-Hübsch T, Alcock L, Beichert L, Bertini E. The Ataxia Global Initiative Working Group on Digital-Motor Biomarkers. Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by. The Cerebellum 2023;23:1566–92. Available from: https://link.springer.com/https://doi.org/10.1007/s12311-023-01625-2
Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R et al. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol 2015;14:1101–8. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1474442215002021
Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, et al. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology. 2011;77:1035–41.
Article PubMed PubMed Central CAS Google Scholar
Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, et al. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J Rare Dis. 2013;8:177.
Article PubMed PubMed Central Google Scholar
Monte TL, Reckziegel EDR, Augustin MC, Locks-Coelho LD, Santos ASP, Furtado GV et al. The progression rate of spinocerebellar ataxia type 2 changes with stage of disease. Orphanet J Rare Dis 2018;13:20. Available from: https://ojrd.biomedcentral.com/articles/https://doi.org/10.1186/s13023-017-0725-y
Article PubMed PubMed Central Google Scholar
Fukuchi CA, Fukuchi RK, Duarte M. Effects of walking speed on gait biomechanics in healthy participants: a systematic review and meta-analysis. 2019;1–11.
Beauchet O, Annweiler C, Lecordroch Y, Allali G, Dubost V, Herrmann FR et al. Walking speed-related changes in Stride time variability: effects of decreased speed. 2009;6:1–6.
Nùñez-Lisboa M, Valero-Breton M, Dewolf AH. Unraveling age-related impairment of the neuromuscular system: exploring biomechanical and neurophysiological perspectives. Front Physiol. 2023;14:1–9. Available from: https://www.frontiersin.org/articles/https://doi.org/10.3389/fphys.2023.1194889/full
Nonnekes J, Post E, Imbalzano G, Bloem BR. Gait changes with aging: an early warning sign for underlying pathology. J Neurol. 2025;272:257. Available from: https://link.springer.com/https://doi.org/10.1007/s00415-025-12995-4
Article PubMed PubMed Central CAS Google Scholar
Morton SM, Tseng Y, Zackowski KM, Daline JR, Bastian AJ. Longitudinal tracking of gait and balance impairments in cerebellar disease. Mov Disord. 2010;25:1944–52. Available from: https://movementdisorders.onlinelibrary.wiley.com/doi/https://doi.org/10.1002/mds.23169
Article PubMed PubMed Central Google Scholar
Siddique U, Choudhury S, Chatterjee K, Rahman S, Bhansali S, Mondal B, et al. A longitudinal quantitative analysis of gait in patients with SCA-12. Clinical Parkinsonism & Related Disorders. 2021;5:100102. https://doi.org/10.1016/j.prdoa.2021.100102.
Comments (0)