Identification of Niemann–Pick type C disease in the group of ataxias of unclear origin in adults

Introduction. NiemannPick type C disease (NPC) is a rare neurovisceral lysosomal storage disease with an autosomal recessie type of inheritance that develops as a result of abnormal intracellular transport of cholesterol and other lipids. The possibility of pathogenetic therapy makes it very importa...

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Bibliographic Details

Published in:	Анналы клинической и экспериментальной неврологии
Main Authors:	Sergey A. Klyushnikov, Tatiana Yu. Proshlyakova, Galina V. Baydakova, Evgenii P. Nuzhnyi, Natalya S. Nikolaeva, Zoya A. Goncharova, Neonila A. Fomina-Chertousova, Elena V. Degtereva, Victoria V. Chernikova, Kristina V. Gorshkova, Natalya S. Artemova, Larisa P. Shperling, Lyudmila N. Antipova, Olga Yu. Tsyplugina, Irina L. Ivanova, Lyubov V. Chepkasova, Sergey N. Illarioshkin
Format:	Article
Language:	English
Published:	Research Center of Neurology 2018-12-01
Subjects:	lysosomal storage diseases niemann–pick type c disease pathogenic therapy early-onset ataxias biochemical screening oxysterols molecular genetic analysis
Online Access:	https://annaly-nevrologii.com/journal/pathID/article/viewFile/547/437