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

Ashton, Catherine; Indelicato, Elisabetta; Pellerin, David; Clément, Guillemette; Danzi, Matt C; Dicaire, Marie-Josée; Bonnet, Céline; ... Brais, Bernard; + view all (2023) Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients. Brain Communications , 5 (5) , Article fcad239. 10.1093/braincomms/fcad239. Green open access

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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.

Type: Article
Title: Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/braincomms/fcad239
Publisher version: https://doi.org/10.1093/braincomms/fcad239
Language: English
Additional information: © The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10177609
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