CANVAS – a newly identified genetic cause of late-onset ataxia. Description of the first cases in the Czech Republic

Authors: M. Danková 1;  Z. Mušová 2;  J. Jeřábek 1;  J. Paulasová;  Schwabová 1,3;  A. Zumrová 3;  E. Vyhnálková 2;  S. Skalská 4;  R. Mazanec 1;  M. Vyhnálek 1
Authors‘ workplace: Centrum hereditárních ataxií, Neurologická, klinika 2. LF UK a FN Motol, Praha 1;  Centrum hereditárních ataxií, Ústav, biologie a lékařské genetiky, 2. LF UK a FN Motol, Praha 2;  Centrum hereditárních ataxií, Klinika, dětské neurologie 2. LF UK, a FN Motol, Praha 3;  Neurologická klinika 1. LF UK a VFN, v Praze, Praha 4
Published in: Cesk Slov Neurol N 2021; 84/117(4): 397-402
Category: From Clinical Praxis
doi: 10.48095/cccsnn2021397


Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease from hereditary ataxias with a late onset that affects the cerebellum, sensory nerves, and the vestibular system. Its genetic cause was discovered in 2019 and since 2020, dia­gnostic molecular genetic testing has also been available. According to the existing literature, it seems that CANVAS is a major cause of late onset hereditary ataxia. Out of the first nine examined patients with the suspected disease, we confirmed four cases of CANVAS; three of the patients are described in detail in this manuscript.


Cerebellar ataxia – neuropathy – vestibulopathy – hereditary ataxias – CANVAS


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