Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector5910.17816/psaic59ReviewsОбзорыUnknownAdult-onset leukoencephalopathy with vanishing white matterПоздняя лейкоэнцефалопатия с исчезающим белым веществомRudenskayaGalina E.РуденскаяГалина Евгеньевна
Russian Federation
rudenskaya@med-gen.ruZakharovaE. Yu.ЗахароваE. Ю.
Russian Federation
rudenskaya@med-gen.ruResearch Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр им. Н.П. Бочкова»03062016102465131012017Copyright ©; 2016, Rudenskaya G.E., Zakharova E.Y.Copyright ©; 2016, Rudenskaya G.E., Zakharova E.Y.2016Rudenskaya G.E., Zakharova E.Y.Rudenskaya G.E., Zakharova E.Y.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/59

Leukoencephalopathy with vanishing white matter (LEVWM) is one of the most common hereditary leukoencephalopathies with characteristic MRI picture of diffuse white matter lesions with cystic degeneration. The disease is associated with EIF2B1-5 genes, encoding five subunits of EIF2B translation initiation factor. There are infantile, children’s (the most frequent one), and adult-onset forms. Adult-onset LE-VWM accounts for 15—20% of all cases and is characterized by significant clinical variability. In addition to neurological and cognitive disorders, this disease is characterized by ovarian failure. The review presents the clinical and molecular genetic aspects of adult-onset LE-VWM.

Лейкоэнцефалопатия с исчезающим белым веществом (ЛЭ-ИБВ) – одна из частых наследственных лейкоэнцефалопатий с характерной МРТ-картиной диффузного поражения белого вещества с кистозной дегенерацией. Болезнь связана с генами EIF2B1–5, кодирующими пять субъединиц фактора инициации трансляции EIF2B. Выделяют младенческую, детскую (самую частую) и позднюю формы. Поздняя ЛЭ-ИБВ составляет 15–20% всех случаев и отличается выраженным клиническим разнообразием. Помимо неврологических и когнитивных расстройств, для данного заболевания характерна яичниковая недостаточность. В обзоре представлены клинические и молекулярно-генетические аспекты поздней ЛЭ ИБВ.

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