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, M. Renaud, Sylvia Boesch, Bernard Brais
Abstract
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.
Topics & Concepts
AcetazolamideSpinocerebellar ataxiaAtaxiaMedicinePhysical medicine and rehabilitationAudiologyPediatricsNeuroscienceInternal medicinePsychologyPsychiatryGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyAutoimmune Neurological Disorders and Treatments