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Oculomotor Findings in Spinocerebellar Ataxia 27B: A Case Series

Published online by Cambridge University Press:  09 December 2024

Guillemette Clément Open the ORCID record for Guillemette Clément [Opens in a new window] ,
Salomé Puisieux ,
Catherine Ashton ,
David Pellerin Open the ORCID record for David Pellerin [Opens in a new window] ,
Matt C. Danzi ,
Céline Bonnet ,
Virginie Roth ,
Marion Wandzel ,
Armand Hocquel  and
Carine Pourié
...Show all authors
Guillemette Clément*
Affiliation:
Service de Neurologie, Centre hospitalier Régional Universitaire de Nancy, Nancy, France INSERM-U1256 NGERE, Université de Lorraine, Nancy, France
Salomé Puisieux
Affiliation:
Service de Neurologie, Centre hospitalier Régional Universitaire de Nancy, Nancy, France INSERM-U1256 NGERE, Université de Lorraine, Nancy, France
Catherine Ashton
Affiliation:
Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada
David Pellerin
Affiliation:
Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK
Matt C. Danzi
Affiliation:
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA
Céline Bonnet
Affiliation:
INSERM-U1256 NGERE, Université de Lorraine, Nancy, France Laboratoire de génétique, Centre Hospitalier Régional Universitaire de Nancy, Nancy, France
Virginie Roth
Affiliation:
Laboratoire de génétique, Centre Hospitalier Régional Universitaire de Nancy, Nancy, France
Marion Wandzel
Affiliation:
Laboratoire de génétique, Centre Hospitalier Régional Universitaire de Nancy, Nancy, France
Armand Hocquel
Affiliation:
Service de Neurologie, Centre hospitalier Régional Universitaire de Nancy, Nancy, France
Carine Pourié
Affiliation:
INSERM-U1256 NGERE, Université de Lorraine, Nancy, France
Natacha Dreumont
Affiliation:
INSERM-U1256 NGERE, Université de Lorraine, Nancy, France
Laetitia Lambert
Affiliation:
Service d’ORL et chirurgie cervico-faciale, CHRU de Nancy Hôpitaux de Brabois, Vandoeuvrelès-Nancy, France
Henry Houlden
Affiliation:
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK
Stephan Zuchner
Affiliation:
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA
Bernard Brais
Affiliation:
Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada Department of Human Genetics, McGill University, Montreal, QC, Canada
Imen Ben Rejeb
Affiliation:
Service d’ORL et chirurgie cervico-faciale, CHRU de Nancy Hôpitaux de Brabois, Vandoeuvrelès-Nancy, France
Solène Frismand
Affiliation:
Service de Neurologie, Centre hospitalier Régional Universitaire de Nancy, Nancy, France INSERM-U1256 NGERE, Université de Lorraine, Nancy, France
Mathilde Renaud
Affiliation:
Service de Neurologie, Centre hospitalier Régional Universitaire de Nancy, Nancy, France INSERM-U1256 NGERE, Université de Lorraine, Nancy, France Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Nancy, Nancy, France
*
Corresponding author: Guillemette Clément; Email: [email protected]
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Abstract

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Keywords

FGF14oculomotor disordersgait disorderscerebellar ataxiaSCA27B
Type
Letter to the Editor: New Observation
Information
Canadian Journal of Neurological Sciences , First View , pp. 1 - 3
Copyright
© The Author(s), 2024. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation

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Footnotes

Guillemette Clément, Salomé Puisieux, Solène Frismand and Mathilde Renaud contributed equally to this work.

References

Pellerin, D, Danzi, MC, Wilke, C et al. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med. 2023;388:128–141.CrossRefGoogle ScholarPubMed
Wilke, C, Pellerin, D, Mengel, D et al. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain. 2023;146:4144–4157.CrossRefGoogle ScholarPubMed
Pellerin, D, Heindl, F, Wilke, C et al. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. EBioMedicine. 2024;102:105076.CrossRefGoogle Scholar
Ashton, C, Indelicato, E, Pellerin, D et al. Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients. Brain Commun. 2023;5(5):fcad239.CrossRefGoogle ScholarPubMed
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Graves, TD, Griggs, RC, Bundy, BN et al. Episodic ataxia type 1: natural history and effect on quality of life. Cerebellum 2023;22(4):578–586. doi: 10.1007/s12311-021-01360-6.Google ScholarPubMed
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