Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat

Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat

Abstract Study objectives Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids. Symptoms include hepatosplenomegaly, vertical supranuclear saccadic palsy, ataxia, dystonia, and dementia. Some...

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Bibliographic Details
Main Authors: A. Imanishi, T. Kawazoe, Y. Hamada, T. Kumagai, K. Tsutsui, N. Sakai, K. Eto, A. Noguchi, T. Shimizu, T. Takahashi, G. Han, K. Mishima, T. Kanbayashi, H. Kondo
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Niemann-pick type C (NPC)
Narcolepsy
Cataplexy
Orexin (hypocretin)
Miglustat
Online Access:http://link.springer.com/article/10.1186/s13023-020-01531-4

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http://link.springer.com/article/10.1186/s13023-020-01531-4

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