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


Journal

Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125

Informations de publication

Date de publication:
2023
Historique:
received: 05 06 2023
revised: 22 07 2023
accepted: 08 09 2023
medline: 14 9 2023
pubmed: 14 9 2023
entrez: 14 9 2023
Statut: epublish

Résumé

Ashton C

Identifiants

pubmed: 37705681
doi: 10.1093/braincomms/fcad239
pii: fcad239
pmc: PMC10495284
doi:

Types de publication

Journal Article

Langues

eng

Pagination

fcad239

Subventions

Organisme : Medical Research Council
ID : MR/S01165X/1
Pays : United Kingdom

Informations de copyright

© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.

Déclaration de conflit d'intérêts

C.A., E.I., D.P., G.C., M.C.D., M.J.D., C.B., H.H., P.J.L., M.R., S.B. and B.B. report no competing interests. S.Z. has received consultancy honoraria from Neurogene, Aeglea BioTherapeutics, Applied Therapeutics, and is an unpaid officer of the TGP foundation, all unrelated to the present manuscript. M.S. has received consultancy honoraria from Ionis, Prevail, Orphazyme, Servier, Reata, GenOrph and AviadoBio, all unrelated to the present manuscript.

Références

Neurology. 2004 Jan 13;62(1):17-22
pubmed: 14718690
Tremor Other Hyperkinet Mov (N Y). 2023 Mar 28;13:9
pubmed: 37008993
Sci Rep. 2023 Jun 15;13(1):9737
pubmed: 37322040
Neurol Clin Pract. 2021 Aug;11(4):e438-e446
pubmed: 34484942
Brain. 2023 May 11;:
pubmed: 37165652
N Engl J Med. 2023 Jan 12;388(2):128-141
pubmed: 36516086
Am J Hum Genet. 2023 Jan 5;110(1):105-119
pubmed: 36493768

Auteurs

Catherine Ashton (C)

Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.
Department of Neurology, Royal Perth Hospital, Perth, WA 6007, Australia.

Elisabetta Indelicato (E)

Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck 6020, Austria.

David Pellerin (D)

Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.
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.

Guillemette Clément (G)

INSERM-U1256 NGERE, Université de Lorraine, 54500 Vandoeuvre-les-Nancy, France.
Service de Neurologie, Centre Hospitalier Régional Universitaire de Nancy, 54000 Nancy, France.
Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Nancy, 54000 Nancy, France.

Matt C Danzi (MC)

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.

Marie-Josée Dicaire (MJ)

Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.

Céline Bonnet (C)

INSERM-U1256 NGERE, Université de Lorraine, 54500 Vandoeuvre-les-Nancy, France.
Laboratoire de Génétique, Centre Hospitalier Régional Universitaire de Nancy, 54000 Nancy, France.

Henry Houlden (H)

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.

Stephan Züchner (S)

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.

Matthis Synofzik (M)

Division of Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.
German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.

Phillipa J Lamont (PJ)

German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.

Mathilde Renaud (M)

INSERM-U1256 NGERE, Université de Lorraine, 54500 Vandoeuvre-les-Nancy, France.
Service de Neurologie, Centre Hospitalier Régional Universitaire de Nancy, 54000 Nancy, France.
Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Nancy, 54000 Nancy, France.

Sylvia Boesch (S)

Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck 6020, Austria.

Bernard Brais (B)

Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.
Department of Human Genetics, McGill University, Montreal, QC H3A 0G4, Canada.
Clinique des maladies neuromusculaires. Centre de Réadaptation Lucie-Bruneau, Montreal, QC H2H 2N8, Canada.

Classifications MeSH