КЛИНИКО-ПАРАКЛИНИЧЕСКИЕ ОСОБЕННОСТИ НАСЛЕДСТВЕННЫХ МОТОСЕНСОРНЫХ ПОЛИНЕВРОПАТИЙ У ДЕТЕЙ
Аннотация
Работа посвящена проблеме клинико-параклинической диагностики ранних неврологических нарушений у детей с наследственными мотосенсорными полиневропатиями (НМСП). Акцентировано внимание на ранней идентификации ЭНМГ-маркеров миелино-, аксонопатии и нейрофизиологических предикторов прогредиенции патологического процесса по данным ЭНМГ-мониторинга в разработке паттерна ранней досимтомной диагностики НМСП и стандартизации патогенетической терапии, с использованием современных медикаментозных средств, направленной на предупреждение развития осложнений и инвалидизации.
Литература
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5. Ferrarin M. Reliability of instrumented movement analysis as outcome measure in Charcot-Marie-Tooth disease: results from a multitask locomotor protocol / M. Ferrarin, G. Bovi, M. Rabuffetti, P. Mazzoleni, A. Montesano, I. Moroni et al. // Gait Posture. – 2011. – Vol. 34 (1). – P. 36-43.
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7. Hashiguchi A. Hereditary neuropathy: variety of disease-causing genes and progress of molecular genetic diagnosis / A. Hashiguchi, H. Takashima // Brain Nerve. – 2011. – Vol. 63 (6). – P. 539-548.
8. Heidenreich W.F. Hereditary neuropathy / W.F. Heidenreich // J Insur Med. – 2010. – Vol. 42 (1). – P. 30-33.
9. Jani-Acsadi A. Charcot-Marie-Tooth neuropathies: diagnosis and management / A. Jani-Acsadi, K. Krajewski, M.E. Shy // Semin Neurol. – 2008. – Vol. 28 (2). – P. 185-194.
10. Kotruchow K. Molecular pathogenesis of hereditary motor and sensory neuropathy / K. Kotruchow, D. Kabzińska, K. Karpińska, A. Kochański // Postepy Biochem. – 2011. – Vol.57 (3). – P. 283-293.
11. Matiasek K. Charcot-Marie-Tooth disease: inherited neuropathies revisited / K. Matiasek, C. Drögemüller // Vet J. – 2011. – Vol. 188 (3). – P. 254-255.
12.Miller L.J. Strategy for genetic testing in Charcot-Marie-disease / L.J. Miller, A.S. Saporta, S.L. Sottile, C.E. Siskind, S.M. Feely et al // Acta Myol. – 2011. – P. 109-116.
13. Nakagawa M. A commentary on Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in
39
Japan / M. Nakagawa // J Hum Genet. – 2011. – Vol. 56 (5). – P. 341-342.
14. Pareyson D. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease / D. Pareyson, C. Marchesi // Lancet Neurol – 2009. – Vol. 8 (7). – P. 654-667.
15. Pitt M. Paediatric electromyography in the modern world: a personal view / M.Pitt // Dev Med Child Neurol. – 2011. – Vol. 53 (2). – P. 120-124.
16. Reilly M.M. Charcot-Marie-Tooth disease / M.M. Reilly, S.M. Murphy, M. Laurá // J Peripher Nerv Syst. – 2011. – Vol. 16(1). – P. 1-14.
17. Reilly M.M. Diagnosis and new treatments in genetic neuropathies / M.M. Reilly, M.E.Shy // J Neurol. Neurosurg.Psychiatry. – 2009. – Vo l (80). – P. 1304-1314.
18. Saporta A.S. Charcot-Marie-Tooth disease subtypes and genetic testing strategies / A.S. Saporta, S.L. Sottile, L.J. Miller, S.M. Feely, C.E .Siskind, M.E. Shy // Ann Neurol. – 2011. – Vol. 69 (1). – P. 22-33.
19. Studies of electromyography and genetics in children with Charcot-Marie-Tooth disease type 1 / X.L. Pan, N.N. Zhang, H.L. Ye, Y.F. Zhao, H. Gao // Zhongguo Dang Dai Er Ke Za Zhi. – 2011. - Vol. 13 (8). – P. 647-650.
20. Treatment and Management of CMT / Charcot-Marie-Tooth Association // Press release. – 2010.
2. Евтушенко С.К. Новые современные технологии в терапии нервно-мышечных заболеваний, направленные на замедление их прогрессирования / С.К. Евтушенко, М.Р. Шаймурзин // Український вісник психоневрології. – Том 17, вип. 2(59). – 2009. – C. 125-130.
3. Bertorini T. Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathies) and Hereditary Sensory and Autonomic Neuropathies / T. Bertorini, P. Narayanaswami, H. Rashed // The Neurologist. – 2004. - Vol. 10 (6). - P. 327-337.
4. Bischoff C. Standards of insrumentation of EMG. In Recommendation for the practice of clinical neurophysiology: Guidelines of the International Federation of clinical neurophysiology / C. Bischoff, A. Fuglsang-Fridriksen, L. Vendelbo, A. Sumner // Supplement 52 to Electroencephalography and clinical neurophysiology. Ed. by G.Deuschl and A.Eisen. – 2009. – P. 199-211.
5. Ferrarin M. Reliability of instrumented movement analysis as outcome measure in Charcot-Marie-Tooth disease: results from a multitask locomotor protocol / M. Ferrarin, G. Bovi, M. Rabuffetti, P. Mazzoleni, A. Montesano, I. Moroni et al. // Gait Posture. – 2011. – Vol. 34 (1). – P. 36-43.
6. Genetic spectrum of hereditary neuropathies with onset in the first year of life / J. Baets, T. Deconinck, E. De Vriendt, M. Zimoń et al. // Brain. – 2011. – Vol.134 (Pt 9). – P. 2664 - 2676.
7. Hashiguchi A. Hereditary neuropathy: variety of disease-causing genes and progress of molecular genetic diagnosis / A. Hashiguchi, H. Takashima // Brain Nerve. – 2011. – Vol. 63 (6). – P. 539-548.
8. Heidenreich W.F. Hereditary neuropathy / W.F. Heidenreich // J Insur Med. – 2010. – Vol. 42 (1). – P. 30-33.
9. Jani-Acsadi A. Charcot-Marie-Tooth neuropathies: diagnosis and management / A. Jani-Acsadi, K. Krajewski, M.E. Shy // Semin Neurol. – 2008. – Vol. 28 (2). – P. 185-194.
10. Kotruchow K. Molecular pathogenesis of hereditary motor and sensory neuropathy / K. Kotruchow, D. Kabzińska, K. Karpińska, A. Kochański // Postepy Biochem. – 2011. – Vol.57 (3). – P. 283-293.
11. Matiasek K. Charcot-Marie-Tooth disease: inherited neuropathies revisited / K. Matiasek, C. Drögemüller // Vet J. – 2011. – Vol. 188 (3). – P. 254-255.
12.Miller L.J. Strategy for genetic testing in Charcot-Marie-disease / L.J. Miller, A.S. Saporta, S.L. Sottile, C.E. Siskind, S.M. Feely et al // Acta Myol. – 2011. – P. 109-116.
13. Nakagawa M. A commentary on Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in
39
Japan / M. Nakagawa // J Hum Genet. – 2011. – Vol. 56 (5). – P. 341-342.
14. Pareyson D. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease / D. Pareyson, C. Marchesi // Lancet Neurol – 2009. – Vol. 8 (7). – P. 654-667.
15. Pitt M. Paediatric electromyography in the modern world: a personal view / M.Pitt // Dev Med Child Neurol. – 2011. – Vol. 53 (2). – P. 120-124.
16. Reilly M.M. Charcot-Marie-Tooth disease / M.M. Reilly, S.M. Murphy, M. Laurá // J Peripher Nerv Syst. – 2011. – Vol. 16(1). – P. 1-14.
17. Reilly M.M. Diagnosis and new treatments in genetic neuropathies / M.M. Reilly, M.E.Shy // J Neurol. Neurosurg.Psychiatry. – 2009. – Vo l (80). – P. 1304-1314.
18. Saporta A.S. Charcot-Marie-Tooth disease subtypes and genetic testing strategies / A.S. Saporta, S.L. Sottile, L.J. Miller, S.M. Feely, C.E .Siskind, M.E. Shy // Ann Neurol. – 2011. – Vol. 69 (1). – P. 22-33.
19. Studies of electromyography and genetics in children with Charcot-Marie-Tooth disease type 1 / X.L. Pan, N.N. Zhang, H.L. Ye, Y.F. Zhao, H. Gao // Zhongguo Dang Dai Er Ke Za Zhi. – 2011. - Vol. 13 (8). – P. 647-650.
20. Treatment and Management of CMT / Charcot-Marie-Tooth Association // Press release. – 2010.
Опубликована
2020-07-19
Как цитировать
ШАЙМУРЗИН, М. Р.; ЕВТУШЕНКО, О. С.; ЕВТУШЕНКО, Л. Ф..
КЛИНИКО-ПАРАКЛИНИЧЕСКИЕ ОСОБЕННОСТИ НАСЛЕДСТВЕННЫХ МОТОСЕНСОРНЫХ ПОЛИНЕВРОПАТИЙ У ДЕТЕЙ.
Архив клинической и экспериментальной медицины, [S.l.], v. 26, n. 1, p. 34-39, июль 2020.
ISSN 1605-9360. Доступно на: <http://journal.dnmu.ru/index.php/akem/article/view/585>. Дата доступа: 24 апр. 2024
Раздел
Оригинальные исследования
