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

Catherine Ashton,Elisabetta Indelicato,David Pellerin,Guillemette Clément,Matt C Danzi,Marie-Josée Dicaire,Céline Bonnet,Henry Houlden,Stephan Züchner,Matthis Synofzik,Phillipa J Lamont,Mathilde Renaud,Sylvia Boesch,Bernard Brais

Brain communications（2023）

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摘要

Ashton C 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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关键词

ataxia,acetazolamide response,episodic symptoms

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