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

Catherine Ashton Elisabetta IndelicatoDavid PellerinGuillemette ClémentMatt C DanziMarie-Josée DicaireCéline BonnetHenry HouldenStephan ZüchnerMatthis SynofzikPhillipa J LamontMathilde RenaudSylvia BoeschBernard Brais

Published in: Brain communications (2023)

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.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
early onset
patient reported outcomes
patient reported