Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Zuchner S, Reilly MM, Houlden H

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Nat Genet 51:649-658 (2019)
DOI:10.1038/s41588-019-0372-4

Migliaccio AA, Halmagyi GM, McGarvie LA, Cremer PD

Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign.

Brain 127:280-93 (2004)
DOI:10.1093/brain/awh030

Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis.

Ann N Y Acad Sci 1233:139-47 (2011)
DOI:10.1111/j.1749-6632.2011.06158.x