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<article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="other" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Neuromuscular Diseases</journal-id><journal-title-group><journal-title xml:lang="en">Neuromuscular Diseases</journal-title><trans-title-group xml:lang="ru"><trans-title>Нервно-мышечные болезни</trans-title></trans-title-group></journal-title-group><issn publication-format="print">2222-8721</issn><issn publication-format="electronic">2413-0443</issn><publisher><publisher-name xml:lang="en">Publishing House ABV Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">395</article-id><article-id pub-id-type="doi">10.17650/2222-8721-2020-10-3-27-34</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>LECTURES AND REVIEWS</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>ЛЕКЦИИ И ОБЗОРЫ</subject></subj-group><subj-group subj-group-type="article-type"><subject></subject></subj-group></article-categories><title-group><article-title xml:lang="en">Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review</article-title><trans-title-group xml:lang="ru"><trans-title>Синдром мозжечковой атаксии, невропатии и вестибулярной арефлексии (CANVAS): обзор литературы</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-3179-7668</contrib-id><name-alternatives><name xml:lang="en"><surname>Nuzhnyi</surname><given-names>E. P.</given-names></name><name xml:lang="ru"><surname>Нужный</surname><given-names>Е. П.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>80 Volokolamskoe shosse, Moscow 125367</p></bio><bio xml:lang="ru"><p><bold>Евгений Петрович Нужный</bold> </p><p>125367 Москва, Волоколамское шоссе, 80</p></bio><email>enuzhny@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-2704-6282</contrib-id><name-alternatives><name xml:lang="en"><surname>Illarioshkin</surname><given-names>S. N.</given-names></name><name xml:lang="ru"><surname>Иллариошкин</surname><given-names>С. Н.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>80 Volokolamskoe shosse, Moscow 125367</p></bio><bio xml:lang="ru"><p>125367 Москва, Волоколамское шоссе, 80</p></bio><xref ref-type="aff" rid="aff1"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">Research Center of Neurology</institution></aff><aff><institution xml:lang="ru">ФГБНУ «Научный центр неврологии»</institution></aff></aff-alternatives><pub-date date-type="pub" iso-8601-date="2020-12-06" publication-format="electronic"><day>06</day><month>12</month><year>2020</year></pub-date><volume>10</volume><issue>3</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>27</fpage><lpage>34</lpage><history><date date-type="received" iso-8601-date="2020-12-06"><day>06</day><month>12</month><year>2020</year></date><date date-type="accepted" iso-8601-date="2020-12-06"><day>06</day><month>12</month><year>2020</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2020, Nuzhnyi E.P., Illarioshkin S.N.</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2020, Нужный Е.П., Иллариошкин С.Н.</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="en">Nuzhnyi E.P., Illarioshkin S.N.</copyright-holder><copyright-holder xml:lang="ru">Нужный Е.П., Иллариошкин С.Н.</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://nmb.abvpress.ru/jour/article/view/395">https://nmb.abvpress.ru/jour/article/view/395</self-uri><abstract xml:lang="en"><p>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<italic> </italic>expansion carriage in the RFC1 gene. With the advent of genetic diagnostics, the understanding of the phenotypic spectrum and variety<italic> </italic>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<italic> </italic>and diagnosis of CANVAS in order to increase the awareness of practitioners and early diagnosis of this disease.</p></abstract><trans-abstract xml:lang="ru"><p>Мозжечковая атаксия, невропатия и вестибулярная арефлексия (синдром CANVAS) – относительно малоизученное аутосомнорецессивное нейродегенеративное заболевание, молекулярная основа которого была открыта лишь в 2019 г. и связана с носительством биаллельной пентануклеотидной экспансии AAGGG-повторов в гене RFC1. С появлением возможностей генетической<italic> </italic>диагностики расширились представления о фенотипическом спектре и разнообразии клинических проявлений данного заболевания, включая сочетание мозжечковой атаксии и сенсорной невропатии, а также изолированной сенсорной полиневропатии/ганглионопатии. В данном обзоре подробно освещены современные сведения об этиологии, патогенезе, клинической картине и диагностике синдрома CANVAS с целью увеличения осведомленности практикующих врачей и своевременной диагностики данного<italic> </italic>заболевания.</p></trans-abstract><kwd-group xml:lang="en"><kwd>ataxia</kwd><kwd>polyneuropathy</kwd><kwd>bilateral vestibulopathy</kwd><kwd>CANVAS</kwd><kwd>RFC1 gene</kwd><kwd>clinical presentation</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>атаксия</kwd><kwd>полиневропатия</kwd><kwd>двусторонняя вестибулопатия</kwd><kwd>CANVAS</kwd><kwd>ген RFC1</kwd><kwd>клиническая картина</kwd></kwd-group><funding-group/></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><citation-alternatives><mixed-citation xml:lang="en">1. Cortese A., Tozza S., Yau W.Y. et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain 2020;143(2):480–90. DOI: 10.1093/brain/awz418. 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