BACKGROUND Niemann-Pick disease type C is a rare inherited neurodegenerative disease involving impaired intracellular lipid trafficking and accumulation of glycolipids in various tissues, including the brain. Miglustat, a reversible inhibitor of glucosylceramide synthase, has been shown to be effective in the treatment of progressive neurological manifestations in pediatric and adult patients w...

In Gaucher Disease (GD) the enzyme (imiglucerase) replacement therapy (ERT) is not able to stop the progression of the neurological involvement, while the substrate reduction therapy (SRT), performed by N-Butyldeoxynojirimycin (miglustat), is an alternative that should be evaluated. Two sisters, presenting the same genotype (R353G/R353G), were diagnosed as suffering from GD; one of them later d...

how to cite this article: saneifard h. treatment with miglustat in patients suffering from npc. iran j child neurol. 2015 autumn;9:4(suppl.1): 13.  pls see pdf.

The mutated protein F508del-cystic fibrosis transmembrane conductance regulator (CFTR) failed to traffic properly as a result of its retention in the endoplasmic reticulum and functions as a chloride (Cl(-)) channel with abnormal gating and endocytosis. Small chemicals (called correctors) individually restore F508del-CFTR trafficking and Cl(-) transport function, but recent findings indicate th...

Miglustat reduces the biosynthesis of glucosylceramide from ceramide through the inhibition of the enzyme glucosylceramide synthase. Glucosylceramide is the first committed step in the synthesis of some 300 to 400 glycosphingolipids. This inhibitory action forms the rationale for substrate reduction therapy in Gaucher disease for which excessive accumulation of glucosylceramide underlies the pa...

UNLABELLED INTRODUCTION Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations. The influence of seizure activity on disease course and response to miglustat therapy is not currently clear. CASE PRESENTATION Niemann-Pick disease type C homozygous for NPC1 mutatio...

Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids. Progressive neurological deterioration and insurgence of symptoms like ataxia, seizure, and cognitive decline until severe dementia are pathognomoni...

Sandhoff disease is a progressive neurodegenerative disorder characterized by accumulation of GM2 gangliosides. We describe a 6-year-old male with coarse facial features, developmental delay, refractory seizures, hypertrophic cardiomyopathy, who was later found to have Sandhoff disease. Previous studies have revealed that caloric restriction in combination with miglustat increased survival and ...

UNLABELLED The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). METHOD Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. RESULT The sample consisted of 5 patients aged 8 to 26 years. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were...