medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.1234/XXXX-XXXX-2016-8-30-32medgen-161Research ArticleСтатьиНаследственная диффузная лейкоэнцефалопатия со сфероидами: первый российский случай, диагностированный методом таргетного NGSHereditary diffuse leukoencephalopathy with spheroids (HDLS): first Russian case diagnosed by targeted NGSРуденскаяГ. Е.RudenskayaG. E.rudenskaya@med-gen.ruИткисЮ. С.ItkusYu. S.noemail@neicon.ruКашинаЕ. М.KashinaE. M.noemail@neicon.ruЗахароваЕ. Ю.ZakharovaE. Yu.noemail@neicon.ruФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian FederationФедеральное государственное бюджетное автономное учреждение «Лечебно-реабилитационный центр»РоссияMedical and Rehabilitation CentreRussian Federation2016071020161583032Copyright © Руденская Г.Е., Иткис Ю.С., Кашина Е.М., Захарова Е.Ю., 20162016Руденская Г.Е., Иткис Ю.С., Кашина Е.М., Захарова Е.Ю.Rudenskaya G.E., Itkus Y.S., Kashina E.M., Zakharova E.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/161

НДЛЭ-С - редкое позднее аутосомно-доминантное заболевание, связанное с геном CSF1R . Основной признак - быстро прогрессирующая деменция, преимущественно лобная. Первый российский случай у больной 41 года, выявленный таргетным NGS, является примером диагностической информативности метода.

HDSL is a rare late-onset dominant disorder produced by CSF1R mutations. Rapidly progressing frontal lobe dementia is a main feature. First Russian case in 41-yеar-old female diagnosed by targeted NGS is an example of method value.

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The authors declare that there are no conflicts of interest present.