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Phenotypic diversity and difficulties in CANVAS diagnosis
https://doi.org/10.30629/2658-7947-2024-29-5-31-36
Abstract
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a hereditary slowly progressive adultonset disorder characterized by sersory and cerebellar ataxia, sensory polyneuropathy and bilateral vestibulopathy. In most cases the cause of this disease is biallelic AAGGG-repeat expansion in the RFC1 gene, encoding eplication factor C subunit 1. Today, CANVAS is one of the most common forms among late-onset hereditary ataxias in the world. The differential diagnosis of this syndrome is carried out with a wide range of hereditary and acquired disorders, which are characterized by a combination of cerebellar and sensory ataxia, polyneuropathy and vestibulopathy. The article describes two clinical cases in which the diagnosis of CANVAS caused several diffculties. The phenotypic diversity of this syndrome and the role of videooculography in the diagnostic algorithm and diagnosis verification are discussed.
Supporting agencies: The study is supported by grant of the Russian Science Foundation (project № 24-15-00209).
About the Authors
E. P. Nuzhnyi
Research Center of Neurology
Russian Federation
Russian Federation
Moscow
A. I. Belyakova-Bodina
Research Center of Neurology
Russian Federation
Russian Federation
N. Yu. Abramycheva
Research Center of Neurology
Russian Federation
Russian Federation
A. S. Filatov
Research Center of Neurology
Russian Federation
Russian Federation
S. N. Illarioshkin
Research Center of Neurology
Russian Federation
Russian Federation
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Review
For citations:
Nuzhnyi E.P., Belyakova-Bodina A.I., Abramycheva N.Yu., Filatov A.S., Illarioshkin S.N. Phenotypic diversity and difficulties in CANVAS diagnosis. Russian neurological journal. 2024;29(5):31-36. (In Russ.) https://doi.org/10.30629/2658-7947-2024-29-5-31-36
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