<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE root>
<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">Annals of Clinical and Experimental Neurology</journal-id><journal-title-group><journal-title xml:lang="en">Annals of Clinical and Experimental Neurology</journal-title><trans-title-group xml:lang="ru"><trans-title>Анналы клинической и экспериментальной неврологии</trans-title></trans-title-group></journal-title-group><issn publication-format="print">2075-5473</issn><issn publication-format="electronic">2409-2533</issn><publisher><publisher-name xml:lang="en">Eco-Vector</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">82</article-id><article-id pub-id-type="doi">10.17816/psaic82</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>Original articles</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>Оригинальные статьи</subject></subj-group><subj-group subj-group-type="article-type"><subject>Unknown</subject></subj-group></article-categories><title-group><article-title xml:lang="en">The range of neurological syndromes associated with glutamic acid decarboxylase antibodies</article-title><trans-title-group xml:lang="ru"><trans-title>Спектр неврологических синдромов, ассоциированных с антителами к глутамат-декарбоксилазе</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Krasnov</surname><given-names>M. Yu.</given-names></name><name xml:lang="ru"><surname>Краснов</surname><given-names>Максим Юрьевич</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>merritt.kraut@gmail.com</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Pavlov</surname><given-names>E. V.</given-names></name><name xml:lang="ru"><surname>Павлов</surname><given-names>Э. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>merritt.kraut@gmail.com</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Ershova</surname><given-names>Margarita V.</given-names></name><name xml:lang="ru"><surname>Ершова</surname><given-names>Маргарита Владимировна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>merritt.kraut@gmail.com</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Timerbaeva</surname><given-names>Sofiya L.</given-names></name><name xml:lang="ru"><surname>Тимербаева</surname><given-names>София Л.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>merritt.kraut@gmail.com</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>Sergey N.</given-names></name><name xml:lang="ru"><surname>Иллариошкин</surname><given-names>Сергей Николаевич</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>D. Sci. (Med.), Prof., Corr. Member of the Russian Academy of Sciences, Deputy Director, Head, Department for brain research</p></bio><bio xml:lang="ru"><p>д.м.н., проф., член-корр. РАН, зам. директора по научной работе, рук. отдела исследований мозга</p></bio><email>merritt.kraut@gmail.com</email><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="2015-12-07" publication-format="electronic"><day>07</day><month>12</month><year>2015</year></pub-date><volume>9</volume><issue>4</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>37</fpage><lpage>41</lpage><history><date date-type="received" iso-8601-date="2017-01-31"><day>31</day><month>01</month><year>2017</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2015, Krasnov M.Y., Pavlov E.V., Ershova M.V., Timerbaeva S.L., Illarioshkin S.N.</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2015, Krasnov M.Y., Pavlov E.V., Ershova M.V., Timerbaeva S.L., Illarioshkin S.N.</copyright-statement><copyright-year>2015</copyright-year><copyright-holder xml:lang="en">Krasnov M.Y., Pavlov E.V., Ershova M.V., Timerbaeva S.L., Illarioshkin S.N.</copyright-holder><copyright-holder xml:lang="ru">Krasnov M.Y., Pavlov E.V., Ershova M.V., Timerbaeva S.L., Illarioshkin S.N.</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://annaly-nevrologii.com/pathID/article/view/82">https://annaly-nevrologii.com/pathID/article/view/82</self-uri><abstract xml:lang="en"><p>Neurological syndromes caused by production of antibodies to glutamic acid decarboxylase (GAD65) are a relatively new area of modern clinical neurology, which is of great theoretical and practical interest. High titer of identified antibodies is a not always specific, but highly sensitive, marker for autoimmune CNS disorders. The authors present their own clinical observations and an analysis of the literature on a wide phenotypic range of GAD65-associated pathologies.</p> <p> </p></abstract><trans-abstract xml:lang="ru"><p>Неврологические синдромы, обусловленные продукцией антител к глутамат-декарбоксилазе (GAD65) – сравнительно новая область современной клинической неврологии, вызывающая большой интерес с теоретических и практических позиций. Высокий титр выявляемых антител является не всегда специфичным, но при этом высокочувствительным маркером аутоиммунного поражения ЦНС. Представлены собственные клинические наблюдения и анализ литературы, посвященной широкому фенотипическому спектру GAD65-ассоциированных форм патологии.</p></trans-abstract><kwd-group xml:lang="en"><kwd>stiff person syndrome</kwd><kwd>sporadic ataxia</kwd><kwd>limbic encephalitis</kwd><kwd>anti-GAD65 antibodies</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>синдром ригидного человека</kwd><kwd>спорадическая атаксия</kwd><kwd>лимбический энцефалит</kwd><kwd>анти-GAD65 антитела</kwd></kwd-group><funding-group/></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><mixed-citation>Каламкарян А.А., Мордовцев В.Н., Трофимова Л.Я. Клиническая дерматология. Редкие и атипичные дерматозы. Ереван: Айастан,1989.</mixed-citation></ref><ref id="B2"><label>2.</label><mixed-citation>Краснов М.Ю., Тимербаева С.Л., Иллариошкин С.Н. Генетика наследственных форм дистонии. Анн. клин. и эксперим. неврол. 2013; 2: 55–62.</mixed-citation></ref><ref id="B3"><label>3.</label><mixed-citation>Мальмберг С.А., Дадали Е.Л., Жумаханов Д.Б. и др. Синдром ригидного человека с дебютом в грудном возрасте. Нервно-мышечные болезни. 2015; 2: 38–43.</mixed-citation></ref><ref id="B4"><label>4.</label><mixed-citation>Alexopoulos H., Dalakas M.C. A clinical update on the immunopathogenesis of Stiff Person Syndrome. Eur. J. Clin. Invest. 2010; 40: 1018–1025.</mixed-citation></ref><ref id="B5"><label>5.</label><mixed-citation>Arino H., Gresa-Arribas N., Blanco Y. et al. Cerebellar ataxia and glutamic acid decarboxylase antibodies: Immulologic profile and longterm effect of immunotherapy. JAMA Neurol. 2014; 71: 1009–1016.</mixed-citation></ref><ref id="B6"><label>6.</label><mixed-citation>Boronat A., Sabater L., Saiz A. et al. GABAB receptor antibodies in limbic encephalitis and anti-GAD–associated neurologic disorders. Neurology. 2011; 76: 795–800.</mixed-citation></ref><ref id="B7"><label>7.</label><mixed-citation>Braun J., Sieper J. Ankylosing spondylitis. Lancet. 2007; 369 (9570): 1379–1390.</mixed-citation></ref><ref id="B8"><label>8.</label><mixed-citation>Chen Y.-T. Glycogen storage diseases. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D. (eds). The Metabolic and Molecular Bases of Inherited Disease. Vol. I. NY: McGraw-Hill, 2001: 1537–1551.</mixed-citation></ref><ref id="B9"><label>9.</label><mixed-citation>Dayalu P., Teener J.W. Stiff Person syndrome and other anti-GADassociated neurologic disorders. Semin Neurol. 2012; 32: 544–549.</mixed-citation></ref><ref id="B10"><label>10.</label><mixed-citation>Drost G., Verrips A., Hooijkaas Н. et al. Glutamic acid decarboxylase antibodies in Satoyoshi syndrome. Ann. Neurol. 2004; 55: 450–451.</mixed-citation></ref><ref id="B11"><label>11.</label><mixed-citation>Ehlayel M.S., Lacassie Y. Satoyoshi syndrome: an unusual postnatal multisystemic disorder. Am. J. Med. Genet. 1995; 57: 620-5.</mixed-citation></ref><ref id="B12"><label>12.</label><mixed-citation>Graus F., Delattre J.Y., Antoine J.C. et al. Recommended diagnostic criteria for paraneoplastic neurological syndromes. J. Neurol. Neurosurg. Psychiatry. 2004; 75: 1135–1140.</mixed-citation></ref><ref id="B13"><label>13.</label><mixed-citation>Gultekin S.H. Recent developments in paraneoplastic disorders of the nervous system. Surg. Pathol. Clin. 2015; 8: 89–99.</mixed-citation></ref><ref id="B14"><label>14.</label><mixed-citation>Hadjivassiliou M., Sanders D.S., Woodroofe N. et al. Gluten ataxia. Cerebellum. 2008; 7: 494–498.</mixed-citation></ref><ref id="B15"><label>15.</label><mixed-citation>Honnorat J., Saiz A., Giometto B. et al. Cerebellar ataxia with antiglutamic acid decarboxylase antibodies. Arch. Neurol. 2001; 58: 225–230.</mixed-citation></ref><ref id="B16"><label>16.</label><mixed-citation>Kono S., Miyajima H., Sugimoto M. et al. Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer. Intern Med. 2001; 40: 968–971.</mixed-citation></ref><ref id="B17"><label>17.</label><mixed-citation>Kuchling J., Shababi-Klein J., Nümann A. et al. GAD antibody-associated late-onset cerebellar ataxia in two female siblings. Case Rep. Neurol. 2014; 6: 264–270.</mixed-citation></ref><ref id="B18"><label>18.</label><mixed-citation>Rakocevic G., Floeter M.K. Autoimmune stiff person syndrome and related myelopathies: Understanding of electrophysiological and immunological processes. Muscle Nerve. 2012; 45: 623–634.</mixed-citation></ref><ref id="B19"><label>19.</label><mixed-citation>Rüegg S.J., Steck A.J., Fuhr P. Levetiracetam improves paroxysmal symptoms in a patient with stiff-person syndrome. Neurology. 2004; 62: 338.</mixed-citation></ref><ref id="B20"><label>20.</label><mixed-citation>Saiz A., Blanco Y., Sabater L. et al. Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain. 2008; 131: 2553–2563.</mixed-citation></ref><ref id="B21"><label>21.</label><mixed-citation>Sharma B., Nagpal K., Prakash S. et al. Anti-GAD negative stiff person syndrome with a favorable response to intravenous methylprednisolone: An experience over evidence. Neurol India. 2014; 62: 76–77.</mixed-citation></ref><ref id="B22"><label>22.</label><mixed-citation>Ueno S., Miyamoto N., Shimura H. et al. Successful immune moderation treatment for progressive encephalomyelitis with rigidity and myoclonus. Intern. Med. 2015; 54: 219–221.</mixed-citation></ref><ref id="B23"><label>23.</label><mixed-citation>Vulliemoz S., Vanini G., Truffert A. et al. Epilepsy and cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies. BMJ Case Rep. 2009; 2009: bcr09.2008.0977.</mixed-citation></ref><ref id="B24"><label>24.</label><mixed-citation>Wenninger S., Schoser B. The spectrum of neuromyotonia: clinics, therapy and outcome. Fortschr. Neurol. Psychiatr. 2015; 83: 457–462.</mixed-citation></ref><ref id="B25"><label>25.</label><mixed-citation>Wu Y., Weber J.L., Vladutiu G.D., Tarnopolsky M.A. Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern. Mol. Genet. Metab. 2011; 104: 587–591.</mixed-citation></ref></ref-list></back></article>
