Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, 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, Fancellu R. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66:1717–20. https://doi.org/10.1212/01.wnl.0000219042.60538.92.
Article CAS PubMed Google Scholar
Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, Bryer A, Diener HC, Massaquoi S, Gomez CM, Coutinho P, Ben Hamida M, Campanella G, Filla A, Schut L, Timann D, Honnorat J, Nighoghossian N, Manyam B, The Ataxia Neuropharmacology Committee of the World Federation of Neurology. International cooperative ataxia rating scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci. 1997;145:205–11. https://doi.org/10.1016/s0022-510x(96)00231-6.
Article CAS PubMed Google Scholar
Shaikh AG, Kim JS, Froment C, Koo YJ, Dupre N, Hadjivassiliou M, Honnorat J, Kothari S, Mitoma H, Rodrigue X, Soong BW, Subramony SH, Strupp M, Schmahmann J, Manto M. Scale for ocular motor disorders in ataxia (SODA). J Neurol Sci. 2022;443: 120472. https://doi.org/10.1016/j.jns.2022.120472.
Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Nemeth AH, Jardim LB, Coarelli G, Dankova M, Traschutz A, Tarnutzer AA. Quantitative oculomotor assessment in hereditary ataxia: systematic review and consensus by the Ataxia Global Initiative working group on digital-motor biomarkers. Cerebellum. 2023. https://doi.org/10.1007/s12311-023-01559-9.
Article PubMed PubMed Central Google Scholar
Group. F-NBW. BEST (Biomarkers, EndpointS, and other Tools) Resource [Internet]. Silver Spring (MD): Food and Drug Administration (US); 2016
Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Nemeth AH, Jardim LB, Coarelli G, Dankova M, Traschutz A, Tarnutzer AA. Quantitative oculomotor assessment in hereditary ataxia: discriminatory power, correlation with severity measures, and recommended parameters for specific genotypes. Cerebellum. 2023. https://doi.org/10.1007/s12311-023-01514-8.
Article PubMed PubMed Central Google Scholar
Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C. Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force. Mov Disord. 2016;31:436–57. https://doi.org/10.1002/mds.26527.
Rossi M, Anheim M, Durr A, Klein C, Koenig M, Synofzik M, Marras C, van de Warrenburg BP, International P, Movement Disorder Society Task Force on C, Nomenclature of Genetic Movement D. The genetic nomenclature of recessive cerebellar ataxias. Mov Disord. 2018;33:1056–76. https://doi.org/10.1002/mds.27415.
Beaudin M, Matilla-Duenas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, Tsuji S, Schmahmann JD, Manto M, Rouleau GA, Klein C, Dupre N. The classification of autosomal recessive cerebellar ataxias: a consensus statement from the Society for Research on the Cerebellum and Ataxias Task Force. Cerebellum. 2019;18:1098–125. https://doi.org/10.1007/s12311-019-01052-2.
Article CAS PubMed PubMed Central Google Scholar
Mariani LL, Rivaud-Pechoux S, Charles P, Ewenczyk C, Meneret A, Monga BB, Fleury MC, Hainque E, Maisonobe T, Degos B, Echaniz-Laguna A, Renaud M, Wirth T, Grabli D, Brice A, Vidailhet M, Stoppa-Lyonnet D, Dubois-d’Enghien C, Le Ber I, Koenig M, Roze E, Tranchant C, Durr A, Gaymard B, Anheim M. Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. Sci Rep. 2017;7: 15284. https://doi.org/10.1038/s41598-017-15127-9.
Article CAS PubMed PubMed Central Google Scholar
Liberati A, Altman DG, Tetzlaff J, Mulrow C, Gotzsche PC, Ioannidis JP, Clarke M, Devereaux PJ, Kleijnen J, Moher D. The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. PLoS Med. 2009;6: e1000100. https://doi.org/10.1371/journal.pmed.1000100.
Article PubMed PubMed Central Google Scholar
Group F-NBW. BEST (Biomarkers, EndpointS, and other Tools). Silver Spring (MD), USA: Food and Drug Administration (US); 2016
Schober P, Boer C, Schwarte LA. Correlation coefficients: appropriate use and interpretation. Anesth Analg. 2018;126:1763–8. https://doi.org/10.1213/ANE.0000000000002864.
McLennan YA, Mosconi MW, McKenzie FJ, Famula J, Krawchuk B, Kim K, Clark CJ, Hessl D, Rivera SM, Simon TJ, Tassone F, Hagerman RJ. Prosaccade and antisaccade behavior in fragile X-associated tremor/ataxia syndrome progression. Mov Disord Clin Pract. 2022;9:473–8. https://doi.org/10.1002/mdc3.13449.
Article PubMed PubMed Central Google Scholar
Wong LM, Goodrich-Hunsaker NJ, McLennan Y, Tassone F, Zhang M, Rivera SM, Simon TJ. Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS. Neuropsychology. 2014;28:571–84. https://doi.org/10.1037/neu0000066.
Article PubMed PubMed Central Google Scholar
Fielding-Gebhardt H, Kelly SE, Unruh KE, Schmitt LM, Pulver SL, Khemani P, Mosconi MW. Sensorimotor and inhibitory control in aging FMR1 premutation carriers. Front Hum Neurosci. 2023;17:1271158. https://doi.org/10.3389/fnhum.2023.1271158.
Article CAS PubMed PubMed Central Google Scholar
Havla J, Moser M, Sztatecsny C, Lotz-Havla AS, Maier EM, Hizli B, Schinner R, Kümpfel T, Strupp M, Bremova-Ertl T, Schneider SA. Retinal axonal degeneration in Niemann-Pick type C disease. J Neurol. 2020;267:2070–82. https://doi.org/10.1007/s00415-020-09796-2.
Article CAS PubMed PubMed Central Google Scholar
Rodríguez-Labrada R, Vázquez-Mojena Y, Canales-Ochoa N, Medrano-Montero J, Velázquez-Pérez L. Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker. Cerebellum Ataxias. 2017;4:19. https://doi.org/10.1186/s40673-017-0078-2.
Article PubMed PubMed Central Google Scholar
Reetz K, Rodríguez-Labrada R, Dogan I, Mirzazade S, Romanzetti S, Schulz JB, Cruz-Rivas EM, Alvarez-Cuesta JA, Aguilera Rodríguez R, Gonzalez Zaldivar Y, Auburger G, Velázquez-Pérez L. Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2. Ann Clin Transl Neurol. 2018;5:128–37. https://doi.org/10.1002/acn3.504.
Article CAS PubMed PubMed Central Google Scholar
Elyoseph Z, Geisinger D, Zaltzman R, Mintz M, Gordon CR. Horizontal vestibulo-ocular reflex deficit as a biomarker for clinical disease onset, severity, and progression of Machado-Joseph disease. Cerebellum. 2023. https://doi.org/10.1007/s12311-023-01552-2.
Wu C, Chen DB, Feng L, Zhou XX, Zhang JW, You HJ, Liang XL, Pei Z, Li XH. Oculomotor deficits in spinocerebellar ataxia type 3: potential biomarkers of preclinical detection and disease progression. CNS Neurosci Ther. 2017;23:321–8. https://doi.org/10.1111/cns.12676.
Article CAS PubMed PubMed Central Google Scholar
de Oliveira CM, Leotti VB, Bolzan G, Cappelli AH, Rocha AG, Ecco G, Kersting N, Rieck M, Martins AC, Sena LS, Saraiva-Pereira ML, Jardim LB. Pre-ataxic Changes of Clinical Scales and Eye Movement in Machado-Joseph Disease: BIGPRO Study. Movement disorders : official journal of the Movement Disorder Society. 2021. https://doi.org/10.1002/mds.28466.
Christova P, Anderson JH, Gomez CM. Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. Arch Neurol. 2008;65:530–6. https://doi.org/10.1001/archneur.65.4.530.
Seifried C, Velázquez-Pérez L, Santos-Falcón N, Abele M, Ziemann U, Almaguer LE, Martínez-Góngora E, Sánchez-Cruz G, Canales N, Pérez-González R, Velázquez-Manresa M, Viebahn B, Stuckrad-Barre S, Klockgether T, Fetter M, Auburger G. Saccade velocity as a surrogate disease marker in spinocerebellar ataxia type 2. Ann N Y Acad Sci. 2005;1039:524–7. https://doi.org/10.1196/annals.1325.059.
Article CAS PubMed Google Scholar
Rodríguez-Labrada R, Velázquez-Pérez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J, Vázquez-Mojena Y, González-Zaldivar Y. Spinocerebellar ataxia type 2: measures of saccade changes improve power for clinical trials. Mov Disord. 2016;31:570–8. https://doi.org/10.1002/mds.26532.
Article CAS PubMed Google Scholar
Lee SU, Kim JS, Kim HJ, Choi JY, Park JY, Kim JM, Yang X. Evolution of the vestibular function during head impulses in spinocerebellar ataxia type 6. J Neurol. 2020;267:1672–8. https://doi.org/10.1007/s00415-020-09756-w.
Article CAS PubMed Google Scholar
Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007;6:765–72. https://doi.org/10.1016/S1474-4422(07)70194-1.
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