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

doi:10.1093/braincomms/fcad239

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

Brain Commun. 2023 Sep 10;5(5):fcad239. doi: 10.1093/braincomms/fcad239. eCollection 2023.

Authors

Catherine Ashton^{1

2}, Elisabetta Indelicato³, David Pellerin^{1

4}, Guillemette Clément^{5

6

7}, Matt C Danzi⁸, Marie-Josée Dicaire¹, Céline Bonnet^{5

9}, Henry Houlden⁴, Stephan Züchner⁸, Matthis Synofzik^{10

11}, Phillipa J Lamont¹¹, Mathilde Renaud^{5

6

7}, Sylvia Boesch³, Bernard Brais^{1

12

13}

Affiliations

¹ Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.
² Department of Neurology, Royal Perth Hospital, Perth, WA 6007, Australia.
³ Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck 6020, Austria.
⁴ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK.
⁵ INSERM-U1256 NGERE, Université de Lorraine, 54500 Vandoeuvre-les-Nancy, France.
⁶ Service de Neurologie, Centre Hospitalier Régional Universitaire de Nancy, 54000 Nancy, France.
⁷ Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Nancy, 54000 Nancy, France.
⁸ Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33176, USA.
⁹ Laboratoire de Génétique, Centre Hospitalier Régional Universitaire de Nancy, 54000 Nancy, France.
¹⁰ Division of Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.
¹¹ German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
¹² Department of Human Genetics, McGill University, Montreal, QC H3A 0G4, Canada.
¹³ Clinique des maladies neuromusculaires. Centre de Réadaptation Lucie-Bruneau, Montreal, QC H2H 2N8, Canada.

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.

Grants and funding

MR/S01165X/1/MRC_/Medical Research Council/United Kingdom