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A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia

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Abstract

Episodic ataxias (EAs) are a heterogeneous group of neurological disorders characterized by recurrent attacks of ataxia. Mutations in KCNA1 and CACNA1A account for the majority of EA cases worldwide. We recruited a two-generation family affected with EA of unknown subtype and performed whole-exome sequencing on two affected members. This revealed a novel heterozygous mutation c.211_212insA (p.I71NfsX27) leading to a premature stop codon in FGF14. Mutations in FGF14 are known to cause spinocerebellar ataxia type 27 (SCA27). Sanger sequencing confirmed segregation within the family. Our findings expand the phenotypic spectrum of SCA27 by underlining the possible episodic nature of this ataxia.

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Acknowledgments

We would like to thank the patients and their relatives who accepted to partake in this study. We also wish to thank Edward Szekeres (PerkinElmer) for the bioinformatics support and Martine Tétreault, Hussein Daoud, and Guy Rouleau for their collaboration. This project was funded by the Fondation Groupe Monaco. KC received studentships from the Canadian Institutes of Health Research and the Fonds de la recherche du Québec – Santé. RLP received the Preston-Robb fellowship from the Montreal Neurological Institute.

Ethical standards

The authors declare that the experiments comply with the current laws of Canada, the country in which they were performed.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, H3A 2B4, Canada

    Karine Choquet, Roberta La Piana & Bernard Brais

  2. Department of Human Genetics, McGill University, Montreal, Quebec, H3A 1B1, Canada

    Karine Choquet & Bernard Brais

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  1. Karine Choquet
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  2. Roberta La Piana
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  3. Bernard Brais
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Correspondence to Bernard Brais.

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Choquet, K., La Piana, R. & Brais, B. A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. Neurogenetics 16, 233–236 (2015). https://doi.org/10.1007/s10048-014-0436-7

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  • DOI: https://doi.org/10.1007/s10048-014-0436-7

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