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

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
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
Series:Анналы клинической и экспериментальной неврологии
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

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