Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review
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 RFC...
| Main Authors: | , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2020-12-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/395 |
| _version_ | 1797695522927017984 |
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| author | E. P. Nuzhnyi S. N. Illarioshkin |
| author_facet | E. P. Nuzhnyi S. N. Illarioshkin |
| author_sort | E. P. Nuzhnyi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T03:13:37Z |
| format | Article |
| id | doaj.art-deeb704420ec471c97fb3853744307f3 |
| institution | Directory Open Access Journal |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| last_indexed | 2024-03-12T03:13:37Z |
| publishDate | 2020-12-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj.art-deeb704420ec471c97fb3853744307f32023-09-03T14:15:44ZrusABV-pressНервно-мышечные болезни2222-87212413-04432020-12-01103273410.17650/2222-8721-2020-10-3-27-34274Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature reviewE. P. Nuzhnyi0S. N. Illarioshkin1ФГБНУ «Научный центр неврологии»ФГБНУ «Научный центр неврологии»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.https://nmb.abvpress.ru/jour/article/view/395атаксияполиневропатиядвусторонняя вестибулопатияcanvasген rfc1клиническая картина |
| spellingShingle | E. P. Nuzhnyi S. N. Illarioshkin Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review Нервно-мышечные болезни атаксия полиневропатия двусторонняя вестибулопатия canvas ген rfc1 клиническая картина |
| title | Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review |
| title_full | Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review |
| title_fullStr | Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review |
| title_full_unstemmed | Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review |
| title_short | Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review |
| title_sort | cerebellar ataxia neuropathy vestibular areflexia syndrome canvas literature review |
| topic | атаксия полиневропатия двусторонняя вестибулопатия canvas ген rfc1 клиническая картина |
| url | https://nmb.abvpress.ru/jour/article/view/395 |
| work_keys_str_mv | AT epnuzhnyi cerebellarataxianeuropathyvestibularareflexiasyndromecanvasliteraturereview AT snillarioshkin cerebellarataxianeuropathyvestibularareflexiasyndromecanvasliteraturereview |