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Definition

A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected.

Acronym

NPC1

Synonyms

Neurovisceral storage disease with vertical supranuclear ophthalmoplegia
Niemann-Pick disease chronic neuronopathic form
Niemann-Pick disease Nova Scotian type
Niemann-Pick disease subacute juvenile form
Niemann-Pick disease type D
Niemann-Pick disease type II
Niemann-Pick disease with cholesterol esterification block
Niemann-Pick disease without sphingomyelinase deficiency
NPC

Keywords

Niemann-Pick disease

 
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