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

Author:

Ashton Catherine12ORCID,Indelicato Elisabetta3ORCID,Pellerin David14,Clément Guillemette567,Danzi Matt C8,Dicaire Marie-Josée1,Bonnet Céline59,Houlden Henry4ORCID,Züchner Stephan8,Synofzik Matthis1011ORCID,Lamont Phillipa J11,Renaud Mathilde567,Boesch Sylvia3,Brais Bernard11213ORCID

Affiliation:

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.

Funder

Deutsche Forschungsgemeinschaft

German Research Foundation

Fondation Groupe Monaco

Montreal General Hospital Foundation

Wellcome Trust

Medical Research Council

Canadian Institutes of Health Research

Publisher

Oxford University Press (OUP)

Subject

Neurology,Cellular and Molecular Neuroscience,Biological Psychiatry,Psychiatry and Mental health

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