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Article

Miglustat therapy in a case of early-infantile Niemann-Pick type C.

Brain & development - 1 Nov 2017

Usui Miho, Miyauchi Akihiko, Nakano Yuko, Nakamura Sachie, Jimbo Eriko, Itamura Shinji, Adachi Kaori, Nanba Eiji, Narita Aya, Yamagata Takanori, Osaka Hitoshi

Abstract excerpt

Niemann-Pick disease type C (NPC) is a rare, progressive autosomal recessive disease. It is caused by mutations in either the NPC1 or NPC2 genes, resulting in defective regulation of intracellular lipid trafficking. Miglustat, which reversibly inhibits glucosylceramide synthase, reportedly has beneficial effects on the progressive neurological symptoms of NPC and was approved in Japan in 2012. Some reports...

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Source

Identifiers

PMID: 28587793
DOI: 10.1016/j.braindev.2017.05.006

Genes

NPC1
NPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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