Neurol. praxi. 2026;27(2):133-138 | DOI: 10.36290/neu.2026.010

Novel therapeutic options in hereditary neurodegenerative cerebellar ataxias

doc. MUDr. Martina Bočková, Ph.D.1, MUDr. Tomáš Boušek1, MUDr. Jaroslava Paulasová Schwabová, Ph.D.2, doc. MUDr. Martin Vyhnálek, Ph.D.3
1 l. neurologická klinika LF MU, FN u sv. Anny v Brně
2 Klinika dětské neurologie 2. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice v Motole, Praha
3 Centrum hereditárních ataxií, Neurologická klinika 2. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice v Motole, Praha

This review summarizes current options for both disease-modifying and symptomatic treatment of degenerative cerebellar ataxias, with a particular focus on two conditions that are significantly reshaping everyday neurological practice: Friedreich's ataxia (FA), with the recent availability of the targeted therapy omaveloxolone, and spinocerebellar ataxia type 27B (SCA27B), for which accumulating evidence supports the efficacy of 4-aminopyridine (4-AP).

Keywords: hereditary cerebellar ataxias, Friedreich's ataxia, spinocerebellar ataxia type 27B, SCA27B, 4-aminopyridine, omaveloxolone.

Received: December 23, 2025; Revised: February 7, 2026; Accepted: February 19, 2026; Prepublished online: February 19, 2026; Published: April 29, 2026  Show citation

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Bočková M, Boušek T, Paulasová Schwabová J, Vyhnálek M. Novel therapeutic options in hereditary neurodegenerative cerebellar ataxias. Neurol. praxi. 2026;27(2):133-138. doi: 10.36290/neu.2026.010.
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    References

    1. Abou Chaar W, Eranki AN, Stevens HA, et al. Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B). Ann Neurol. 2024 Dec;96(6):1092-1103. doi: 10.1002/ana.27060. Go to original source... Go to PubMed...
    2. Campuzano V, Montermini L, Moltò MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 8;271(5254):1423-7 Go to original source... Go to PubMed...
    3. Clément G, Puisieux S, Pellerin D, et al. Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia. Rev Neurol (Paris). 2024 May;180(5):410-416. doi: 10.1016/j.neurol.2024.03.007. Go to original source... Go to PubMed...
    4. Cook A, Giunti P. Friedreich's ataxia: clinical features, pathogenesis and management. Br Med Bull. 2017 Dec 1;124(1):19-30. doi: 10.1093/bmb/ldx034. Go to original source... Go to PubMed...
    5. Dayalan Naidu S, Dinkova-Kostova AT. Omaveloxolone (SkyclarysTM) for patients with Friedreich's ataxia. Trends Pharmacol Sci. 2023 Jun;44(6):394-395. Go to original source...
    6. Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet. 2005 Oct;6(10):743-55. doi: 10.1038/nrg1691. PMID: 16205714. Go to original source... Go to PubMed...
    7. Iruzubieta P, Pellerin D, Bergareche A, et al. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. Eur J Neurol. 2023 Dec;30(12):3828-3833. doi: 10.1111/ene.16039. Go to original source... Go to PubMed...
    8. Lecocq C, Charles P, Azulay JP, et al. Delayed-onset Friedreich's ataxia revisited. Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Go to original source... Go to PubMed...
    9. Lynch DR, Farmer J, Hauser L, et al. Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia. Ann Clin Transl Neurol. 2018 Nov 10;6(1):15-26. Go to original source...
    10. Lynch DR, Schadt K, Kichula E, et al. Friedreich Ataxia: Multidisciplinary Clinical Care. J Multidiscip Healthc. 2021 Jun 28;14:1645-1658. Go to original source... Go to PubMed...
    11. Lynch DR, Chin MP, Delatycki MB, et al. Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study). Ann Neurol. 2021 Feb;89(2):212-225. doi: 10.1002/ana.25934. Go to original source... Go to PubMed...
    12. Lynch DR, Chin MP, Boesch S, et al. Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension. Mov Disord. 2023 Feb;38(2):313-320. doi: 10.1002/mds.29286. Go to original source...
    13. Nachbauer W, Lynch DR, Delatycki MB, et al. Long-term omaveloxolone use in patients with Friedreich ataxia: ≈5-year natural history propensity score matching from the MOXIe open-label extension [Poster presentation]. Annual Congress of the World Muscle Society (WMS) 2025, Vienna, Austria. 2025, October 711. Go to original source...
    14. Pellerin D, Heindl F, Wilke C, et al. Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response. medRxiv. 2023. 2023.2007.2030.23293380. Go to original source...
    15. Pellerin D, Danzi MC, Wilke C, et al. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. N Engl J Med. 2023;388(2):128-141. doi:10.1056/NEJMoa2207406. Go to original source...
    16. Pellerin D, Danzi MC, Renaud M, et al. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clin Transl Med. 2024 Jan;14(1):e1504. doi: 10.1002/ctm2.1504. Go to original source... Go to PubMed...
    17. Pellerin D, Heindl F, Wilke C, et al. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Go to original source... Go to PubMed...
    18. Rafehi H, Read J, Szmulewicz DJ, et al. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. The American Journal of Human Genetics. 2023;110(1):105-119. doi:10.1016/j. ajhg.2022.11.015. Go to original source... Go to PubMed...
    19. Satolli S, Rossi S, Vegezzi E, et al.. Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort. J Neurol. 2024 Aug;271(8):5478-5488. doi: 10.1007/s00415-024-12506-x. Epub 2024 Jun 17. Erratum in: J Neurol. 2024 Dec;271(12):7650-7651. doi: 10.1007/s00415-024-12629-1. PMID: 38886208. Go to original source...
    20. Seemann J, Traschutz A, Ilg W, Synofzik M. 4-Aminopyridine improves real-life gait performance in SCA27B on a singlesubject level: a prospective n-of-1 treatment experience. J Neurol. 2023;270:5629-5634. Go to original source...
    21. Shirai S, Mizushima K, Fujiwara K, et al. Case series: Downbeat nystagmus in SCA27B. J Neurol Sci. 2023 Nov 15;454:120849. doi: 10.1016/j.jns.2023.120849. Go to original source... Go to PubMed...
    22. Vališ M, Halúsková S, Matyáš D, et al. Friedreichova ataxie - co jsme se naučili za 160 let. Neurol. praxi. 2024;25(4):296-302 Go to original source...
    23. Vyhnálková E, Mušová Z, Zumrová A, et al. Dědičné cerebelární ataxie u dospělých. Neurol. praxi. 2019;20(5):344-350. Go to original source...
    24. Vyhnálek M, Vyhnálková E, Karamazovová S, et al. Dědičné ataxie s nástupem po 50. roce věku. Neurol. praxi. 2025;26(1):31-36. https://doi.org/10.36290/neu.2024.070 Go to original source...
    25. Waldvogel D, van Gelderen P, Hallett M. Increased iron in the dentate nucleus of patients with Friedrich's ataxia. Ann Neurol. 1999 Jul;46(1):123-5. Go to original source...
    26. Wilke C, Pellerin D, Mengel D, et al. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain. 2023;146:4144-4157. Go to original source... Go to PubMed...
    27. Wirth T, Clement G, Delvallee C, et al.Natural history and phenotypic spectrum of GAA-FGF14 sporadic late-onset cerebellar ataxia (SCA27B). Mov Disord. 2023;38:1950-1956. Go to original source... Go to PubMed...
    28. Wirth T, Bonnet C, Delvallée C, et al. Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy? J Neurol. 2024 Apr;271(4):2078-2085. doi: 10.1007/s00415-024-12182-x. Epub 2024 Jan 23. PMID: 38263489. Go to original source... Go to PubMed...
    29. Zumrová A, Šťovíčková L. Friedreichova ataxie. Cesk Slov Neurol N. 2024;87(6):385-401. Go to original source...

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