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<article article-type="research-article" dtd-version="1.3" 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" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">nnp</journal-id><journal-title-group><journal-title xml:lang="en">Neurology, Neuropsychiatry, Psychosomatics</journal-title><trans-title-group xml:lang="ru"><trans-title>Неврология, нейропсихиатрия, психосоматика</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2074-2711</issn><issn pub-type="epub">2310-1342</issn><publisher><publisher-name>"IMA-Press", LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.14412/2074-2711-2022-1-108-114</article-id><article-id custom-type="elpub" pub-id-type="custom">nnp-1759</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>CLINICAL OBSERVATIONS</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯ</subject></subj-group></article-categories><title-group><article-title>COVID 19 in a family with rare genetic disease of the nervous system</article-title><trans-title-group xml:lang="ru"><trans-title>COVID-19 в семье с редким генетическим заболеванием нервной системы</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2797-7877</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мартынов</surname><given-names>М. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Martynov</surname><given-names>M. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>117997, Москва, ул. Островитянова, 1;</p><p>117513, Москва, ул. Островитянова, 1, стр. 10</p></bio><bio xml:lang="en"><p>1, Ostrovityanov St., Moscow 117997;</p><p>1, Ostrovityanov St., Build 10, Moscow 117513</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-7535-8718</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Куташов</surname><given-names>В. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kutashov</surname><given-names>V. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>394036, Воронеж, ул. Студенческая, 10</p></bio><bio xml:lang="en"><p>10, Studencheskaya St., Voronezh 394036</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2754-2670</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ульянова</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Ulyanova</surname><given-names>O. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>394036, Воронеж, ул. Студенческая, 10</p></bio><bio xml:lang="en"><p>10, Studencheskaya St., Voronezh 394036</p></bio><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России;&#13;
ФГБУ «Федеральный центр мозга и нейротехнологий» ФМБА России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia;&#13;
Federal Center of Brain and Neurotechnologies, FMBA of Russia</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБОУ ВО «Воронежский государственный медицинский университет им. Н.Н. Бурденко» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N.N. Burdenko Voronezh State Medical University, Ministry of Health of Russia</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2022</year></pub-date><pub-date pub-type="epub"><day>26</day><month>02</month><year>2022</year></pub-date><volume>14</volume><issue>1</issue><fpage>108</fpage><lpage>114</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Martynov M.Y., Kutashov V.A., Ulyanova O.V., 2022</copyright-statement><copyright-year>2022</copyright-year><copyright-holder xml:lang="ru">Мартынов М.Ю., Куташов В.А., Ульянова О.В.</copyright-holder><copyright-holder xml:lang="en">Martynov M.Y., Kutashov V.A., Ulyanova O.V.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://nnp.ima-press.net/nnp/article/view/1759">https://nnp.ima-press.net/nnp/article/view/1759</self-uri><abstract><p>We present familial tuberous sclerosis (TS) case complicated by COVID-19. COVID-19 aggravates the course of TS and may lead to a fatal outcome. We review the role of mTORC1 (mechanistic/mammalian Target of Rapamycin Complex 1) in the development and functions of the nervous system and the pathogenesis of TS and COVID-19 with emphasis on the involvement of the brain and lungs. We observed that COVID-19 worsens the course of epilepsy in patients with TS. In TS patients, lymphangioleiomyomatosis may predispose to SARS-CoV-2 invasion into the respiratory system because of the increased expression of ACE2 and TMPRSS2 in type II pneumocytes and thus may worsen the prognosis. We also review the current data on the continuation/termination of everolimus administration in patients with TS associated with COVID-19. </p></abstract><trans-abstract xml:lang="ru"><p>Приведено описание семейного случая туберозного склероза (ТС), осложненного COVID-19. Присоединение COVID-19 отягощает течение ТС и может приводить к неблагоприятному исходу. Рассмотрена роль mTORC1 (mechanistic/mammalian Target of Rapamycin Complex 1) в развитии и функционировании нервной системы и в патогенезе ТС и COVID-19, в частности в поражении головного мозга и легких. Показано, что у больных ТС присоединение COVID-19 утяжеляет течение эпилепсии. Отмечено, что наличие лимфангиолейомиоматоза может предрасполагать к проникновению вируса SARS-CoV-2 в легкие вследствие повышенной экспрессии ACE2 и TMPRSS2 в пневмоцитах II типа и отягощать прогноз. Рассмотрены вопросы прекращения/продолжения терапии эверолимусом у больных ТС при присоединении COVID-19. </p></trans-abstract><kwd-group xml:lang="ru"><kwd>туберозный склероз</kwd><kwd>головной мозг</kwd><kwd>эпилепсия</kwd><kwd>лимфангиолейомиоматоз</kwd><kwd>COVID-19</kwd><kwd>SARS-CoV-2</kwd><kwd>mTORC1</kwd><kwd>рапамицин</kwd><kwd>эверолимус</kwd></kwd-group><kwd-group xml:lang="en"><kwd>tuberous sclerosis</kwd><kwd>brain</kwd><kwd>epilepsy</kwd><kwd>lymphangioleiomyomatosis</kwd><kwd>COVID-19</kwd><kwd>SARS-CoV-2</kwd><kwd>mTORC1</kwd><kwd>rapamycin</kwd><kwd>everolimus</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Le Bert N, Clapham HE, Tan AT, et al. Highly functional virus-specific cellular immune response in asymptomatic SARS-CoV2 infection. 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