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. 2023 Sep 10;5(5):fcad239.
doi: 10.1093/braincomms/fcad239. eCollection 2023.

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

Catherine Ashton  1   2 , Elisabetta Indelicato  3 , David Pellerin  1   4 , Guillemette Clément  5   6   7 , Matt C Danzi  8 , Marie-Josée Dicaire  1 , Céline Bonnet  5   9 , Henry Houlden  4 , Stephan Züchner  8 , Matthis Synofzik  10   11 , Phillipa J Lamont  11 , Mathilde Renaud  5   6   7 , Sylvia Boesch  3 , Bernard Brais  1   12   13
Affiliations

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

Catherine Ashton et al. Brain Commun. .

Abstract

Ashton C et al report a retrospective multi-centre cohort of 34 patients from Canada, France, Austria and Australia with spinocerebellar ataxia 27B, describing the common feature of episodic ataxia and other episodic features, as well as the inefficacy of acetazolamide in these patients.

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Conflict of interest statement

C.A., E.I., D.P., G.C., M.C.D., M.J.D., C.B., H.H., P.J.L., M.R., S.B. and B.B. report no competing interests. S.Z. has received consultancy honoraria from Neurogene, Aeglea BioTherapeutics, Applied Therapeutics, and is an unpaid officer of the TGP foundation, all unrelated to the present manuscript. M.S. has received consultancy honoraria from Ionis, Prevail, Orphazyme, Servier, Reata, GenOrph and AviadoBio, all unrelated to the present manuscript.

Figures

Figure 1
Figure 1
Therapeutic effect and side effects of acetazolamide in patients with SCA27B. (A) Proportion of patients (n = 34) responding to acetazolamide, where sustained response refers to improvement on serial clinic reviews and non-sustained response refers to waning of initial benefit on subsequent reviews. (B) Proportion of patients (n = 34) reporting side effects with acetazolamide.
See this image and copyright information in PMC

References

    1. Wilke C, Pellerin D, Mengel D, et al. . GAA-FGF14 ataxia (SCA27B): Phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain. 2023:awad157. doi: 10.1093/brain/awad157. Epub ahead of print. PMID: 37165652. - DOI - PubMed
    1. 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. - PMC - PubMed
    1. Rafehi H, Read J, Szmulewicz DJ, 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(1):105–119. - PMC - PubMed
    1. Muth C, Teufel J, Schöls L, et al. . Fampridine and acetazolamide in EA2 and related familial EA: A prospective randomized placebo-controlled trial. Neurol Clin Pract. 2021;11(4):e438–e446. - PMC - PubMed
    1. Hassan A. Episodic ataxias: Primary and secondary etiologies, treatment, and classification approaches. Tremor Hyperkinetic Mov. 2023;13:9. - PMC - PubMed

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