Open AccessCerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review
Author(s) -
Е. П. Нужный,
С.Н. Иллариошкин
Publication year - 2020
Publication title -
nervno-myšečnye bolezni
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 3
eISSN - 2413-0443
pISSN - 2222-8721
DOI - 10.17650/2222-8721-2020-10-3-27-34
Subject(s) - cerebellar ataxia , ataxia , etiology , medicine , neuroscience , disease , sensory neuropathy , pathology , polyneuropathy , vestibular system , dermatology , audiology , psychology
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a relatively poorly understood autosomal recessive neurodegenerative disease. The molecular basis of CANVAS was discovered only in 2019 and it is associated with the biallelic pentanucleotide AAGGG expansion carriage in the RFC1 gene. With the advent of genetic diagnostics, the understanding of the phenotypic spectrum and variety of clinical manifestations of this disease has expanded, including a combination of cerebellar ataxia and sensory neuropathy, as well as isolated sensory polyneuropathy/ganglionopathy. This review details current information on the etiology, pathogenesis, clinical presentation and diagnosis of CANVAS in order to increase the awareness of practitioners and early diagnosis of this disease.