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

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.

Detalles Bibliográficos
Autores principales: Ashton, Catherine, Indelicato, Elisabetta, Pellerin, David, Clément, Guillemette, Danzi, Matt C, Dicaire, Marie-Josée, Bonnet, Céline, Houlden, Henry, Züchner, Stephan, Synofzik, Matthis, Lamont, Phillipa J, Renaud, Mathilde, Boesch, Sylvia, Brais, Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495284/
https://www.ncbi.nlm.nih.gov/pubmed/37705681
http://dx.doi.org/10.1093/braincomms/fcad239
Descripción
Sumario: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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