Нервно-мышечные болезни. 2023; 13: 74‑82
Наследственные спастические параплегии
https://doi.org/10.17650/2222-8721-2023-13-4-74-82Аннотация
Наследственные спастические параплегии – группа нейродегенеративных заболеваний с преимущественным поражением кортикоспинального тракта, которые проявляются выраженной спастичностью и снижением силы в мышцах нижних конечностей. По клиническим проявлениям выделяют неосложненные (классические) и осложненные формы, по типу наследования – аутосомно-доминантные, аутосомно-рецессивные и Х-сцепленные. Механизмы развития наследственных спастических параплегий зависят от формы заболевания и связаны с мисфолдингом белков в эндоплазматическом ретикулуме, митохондриальной дисфункцией, нарушением метаболизма холестерина и проч. Диагноз наследственных спастических параплегий устанавливается при наличии характерных клинико-анамнестических данных, при исключении других заболеваний центральной нервной системы и подтверждается молекулярно-генетическими методами. Лечение наследственных спастических параплегий симптоматическое.
Список литературы
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40. Panza E., Meyyazhagan A., Orlacchio A. Hereditary spastic paraplegia: Genetic heterogeneity and common pathways. Exp Neurol 2022;357:114203. DOI: 10.1016/j.expneurol.2022.114203
41. Meyyazhagan A., Kuchi Bhotla H., Pappuswamy M., Orlacchio A. The puzzle of hereditary spastic paraplegia: From epidemiology to treatment. Int J Mol Sci 2022;23(14):7665. DOI: 10.3390/ijms23147665
Neuromuscular Diseases. 2023; 13: 74‑82
Hereditary spastic paraplegias
https://doi.org/10.17650/2222-8721-2023-13-4-74-82Abstract
Hereditary spastic paraplegias represent a group of hereditary neurodegenerative disorders predominantly affecting corticospinal tracts which manifest with prominent spasticity and reduced power in the muscles of the lower limbs. According to clinical signs hereditary spastic paraplegias are divided into uncomplicated (classic) and complicated forms, according to the nature of inheritance – into autosomal dominant, autosomal recessive and X-linked. Mechanisms of the development of hereditary spastic paraplegias depend on the form and could be associated with misfolding of the proteins in endoplasmatic reticulum, mitochondrial dysfunction, changes in the cholesterol metabolism etc. Diagnosis is made after exclusion of other disorders of the central nervous system and could be confirmed by molecular genetic methods. Treatment of hereditary spastic paraplegias is symptomatic.
References
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