Kuo SH. Ataxia. Continuum (Minneap Minn). 2019;25:1036–54. https://doi.org/10.1212/CON.0000000000000753.
Sullivan R, Yau WY, O’Connor E, Houlden H. Spinocerebellar ataxia: an update. J Neurol. 2019;266:533–44. https://doi.org/10.1007/s00415-018-9076-4.
Soong BW, Morrison PJ. Spinocerebellar ataxias. Handb Clin Neurol. 2018;155:143–74. https://doi.org/10.1016/B978-0-444-64189-2.00010-X.
Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nat Rev Dis Primers. 2019;5:24. https://doi.org/10.1038/s41572-019-0074-3.
Radmard S, Zesiewicz TA, Kuo SH. Evaluation of cerebellar ataxic patients. Neurol Clin. 2023;41:21–44. https://doi.org/10.1016/j.ncl.2022.05.002.
Lin CC, Ashizawa T, Kuo SH. Collaborative efforts for spinocerebellar Ataxia research in the united states: CRC-SCA and READISCA. Front Neurol. 2020;11:902. https://doi.org/10.3389/fneur.2020.00902.
Article PubMed PubMed Central Google Scholar
Luo L, Wang J, Lo RY, Figueroa KP, Pulst SM, Kuo PH, Perlman S, Wilmot G, Gomez CM, Schmahmann J, et al. The initial symptom and motor progression in spinocerebellar ataxias. Cerebellum. 2017;16:615–22. https://doi.org/10.1007/s12311-016-0836-3.
Article PubMed PubMed Central Google Scholar
Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, 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. https://doi.org/10.1186/1750-1172-8-177.
Article PubMed PubMed Central Google Scholar
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, et al. Baseline clinical and blood biomarkers in patients with preataxic and Early-Stage disease spinocerebellar Ataxia 1 and 3. Neurology. 2023;100:e1836–48. https://doi.org/10.1212/WNL.0000000000207088.
Article CAS PubMed PubMed Central Google Scholar
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schols L, Mariotti C, et al. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014;137:2444–55. https://doi.org/10.1093/brain/awu174.
Article PubMed PubMed Central Google Scholar
Chandrasekaran J, Petit E, Park YW, du Montcel ST, Joers JM, Deelchand DK, Povazan M, Banan G, Valabregue R, Ehses P, et al. Clinically meaningful magnetic resonance endpoints sensitive to preataxic spinocerebellar Ataxia types 1 and 3. Ann Neurol. 2023;93:686–701. https://doi.org/10.1002/ana.26573.
Article CAS PubMed Google Scholar
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, et al. Deep intronic FGF14 GAA repeat expansion in Late-Onset cerebellar Ataxia. N Engl J Med. 2023;388:128–41. https://doi.org/10.1056/NEJMoa2207406.
Article CAS PubMed Google Scholar
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, et al. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. Am J Hum Genet. 2023;110:105–19. https://doi.org/10.1016/j.ajhg.2022.11.015.
Article CAS PubMed Google Scholar
Novis LE, Frezatti RS, Pellerin D, Tomaselli PJ, Alavi S, Della Coleta MV, Spitz M, Dicaire MJ, Iruzubieta P, Pedroso JL, et al. Frequency of GAA-FGF14 Ataxia in a large cohort of Brazilian patients with unsolved Adult-Onset cerebellar Ataxia. Neurol Genet. 2023;9:e200094. https://doi.org/10.1212/NXG.0000000000200094.
Article PubMed PubMed Central Google Scholar
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, et al. Natural history and phenotypic spectrum of GAA-FGF14 sporadic Late-Onset cerebellar Ataxia (SCA27B). Mov Disord. 2023. https://doi.org/10.1002/mds.29560.
Kartanou C, Mitrousias A, Pellerin D, Kontogeorgiou Z, Iruzubieta P, Dicaire MJ, Danzi MC, Koniari C, Athanassopoulos K, Panas M, et al. The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations. Clin Genet. 2024;105:446–52. https://doi.org/10.1111/cge.14482.
Article CAS PubMed Google Scholar
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, et al. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine. 2024;99:104931. https://doi.org/10.1016/j.ebiom.2023.104931.
Article CAS PubMed Google Scholar
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, et al. Deep intronic FGF14 GAA repeat expansion in Late-Onset cerebellar Ataxia. N Engl J Med. 2023;388:128–41. https://doi.org/10.1056/NEJMoa2207406.
Article CAS PubMed Google Scholar
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019;51:649–58. https://doi.org/10.1038/s41588-019-0372-4.
Article CAS PubMed PubMed Central Google Scholar
Novis LE, Alavi S, Pellerin D, Della Coleta MV, Raskin S, Spitz M, Cortese A, Houlden H, Teive HA. Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients. Parkinsonism Relat Disord. 2024;119:105961. https://doi.org/10.1016/j.parkreldis.2023.105961.
Article CAS PubMed Google Scholar
Ando M, Higuchi Y, Yuan JH, Yoshimura A, Higashi S, Takeuchi M, Hobara T, Kojima F, Noguchi Y, Takei J, et al. Genetic and clinical features of cerebellar ataxia with. Front Neurol. 2022;13:952493. https://doi.org/10.3389/fneur.2022.952493.
Article PubMed PubMed Central Google Scholar
Tyagi N, Uppili B, Sharma P, Parveen S, Saifi S, Jain A, Sonakar A, Ahmed I, Sahni S, Shamim U, et al. Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort. Neurogenetics. 2024;25:13–25. https://doi.org/10.1007/s10048-023-00736-6.
Article CAS PubMed Google Scholar
Lynch DR, Goldsberry A, Rummey C, Farmer J, Boesch S, Delatycki MB, Giunti P, Hoyle JC, Mariotti C, Mathews KD, et al. Propensity matched comparison of Omaveloxolone treatment to Friedreich ataxia natural history data. Ann Clin Transl Neurol. 2024;11:4–16. https://doi.org/10.1002/acn3.51897.
Article CAS PubMed Google Scholar
Georgiou-Karistianis N, Corben LA, Reetz K, Adanyeguh IM, Corti M, Deelchand DK, Delatycki MB, Dogan I, Evans R, Farmer J, et al. A natural history study to track brain and spinal cord changes in individuals with friedreich’s ataxia: TRACK-FA study protocol. PLoS ONE. 2022;17:e0269649. https://doi.org/10.1371/journal.pone.0269649.
Article CAS PubMed PubMed Central Google Scholar
Mereaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, et al. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine. 2024;99:104931. https://doi.org/10.1016/j.ebiom.2023.104931.
Article CAS PubMed Google Scholar
Curro R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Deforie G, Fernandez-Eulate V, Traschutz G, Rossi A, Garibaldi S, M., et al. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain. 2024;147:1887–98. https://doi.org/10.1093/brain/awad436.
Article PubMed PubMed Central Google Scholar
Cornelius ME, Loretan CG, Jamal A, Davis Lynn BC, Mayer M, Alcantara IC, Neff L. Tobacco product use among Adults - United states, 2021. MMWR Morb Mortal Wkly Rep. 2023;72:475–83. https://doi.org/10.15585/mmwr.mm7218a1.
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