Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Cortese, Andrea; Tozza, Stefano; Yau, Wai Yan; Rossi, Salvatore; Beecroft, Sarah J; Jaunmuktane, Zane; Dyer, Zoe; Ravenscroft, Gianina; Lamont, Phillipa J; Mossman, Stuart; Chancellor, Andrew; Maisonobe, Thierry; Pereon, Yann; Cauquil, Cecile; Colnaghi, Silvia; Mallucci, Giulia; Curro, Riccardo; Tomaselli, Pedro J; Thomas-Black, Gilbert; Sullivan, Roisin; Efthymiou, Stephanie; Rossor, Alexander M; Laurá, Matilde; Pipis, Menelaos; Horga, Alejandro; Polke, James; Kaski, Diego; Horvath, Rita; Chinnery, Patrick; Marques, Wilson; Tassorelli, Cristina; Devigili, Grazia; Leonardis, Lea; Wood, Nick W; Bronstein, Adolfo; Giunti, Paola; Züchner, Stephan; Stojkovic, Tanya; Laing, Nigel; Roxburgh, Richard H; Houlden, Henry; Reilly, Mary M

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Authors

Cortese, Andrea

Tozza, Stefano

Yau, Wai Yan

Rossi, Salvatore

Beecroft, Sarah J

Jaunmuktane, Zane

Dyer, Zoe

Publication Date

2020-02

Journal Title

Brain : a journal of neurology

ISSN

0006-8950

Volume

143

Issue

Pages

480-490

Language

eng

Type

Article

This Version

VoR

Physical Medium

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Citation

Cortese, A., Tozza, S., Yau, W. Y., Rossi, S., Beecroft, S. J., Jaunmuktane, Z., Dyer, Z., et al. (2020). Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.. Brain : a journal of neurology, 143 (2), 480-490. https://doi.org/10.1093/brain/awz418

Keywords

Cerebellum, Humans, Vestibular Neuronitis, Ataxia, Cerebellar Ataxia, Reflex, Abnormal, Sensation Disorders, Peripheral Nervous System Diseases, Syndrome, Neurologic Examination, Aged, Aged, 80 and over, Middle Aged, Female, Male

Sponsorship

Wellcome Trust (212219/Z/18/Z)

MRC (MR/N025431/2)

Identifiers

External DOI: https://doi.org/10.1093/brain/awz418

This record's URL: https://www.repository.cam.ac.uk/handle/1810/304589

Rights

Attribution 4.0 International

Licence URL: https://creativecommons.org/licenses/by/4.0/

Except where otherwise noted, this item's licence is described as Attribution 4.0 International