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

Česká verze

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 place of work: 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 the journal: Cesk Slov Neurol N 2021; 84/117(4): 397-402
Category: Z klinické praxe
doi: https://doi.org/10.48095/cccsnn2021397

Summary

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.

Keywords:

Cerebellar ataxia – neuropathy – vestibulopathy – hereditary ataxias – CANVAS

Zdroje

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