Niemann-Pick disease type C

Niemann-Pick disease type C is a rare, life-limiting autosomal recessive neurovisceral lysosomal lipid storage disorder caused by pathogenic variants in either the *NPC1* or *NPC2* gene

Niemann-Pick disease type C is a rare, life-limiting autosomal recessive neurovisceral lysosomal lipid storage disorder caused by pathogenic variants in either the *NPC1* or *NPC2* gene These genetic defects impair endolysosomal trafficking, resulting in the abnormal intracellular accumulation of unesterified cholesterol and glycosphingolipids across multiple organ systems, predominantly damaging the brain, liver, and spleen It can present at any age—from neonates to older adults—with clinical h...

Niemann-Pick disease type C is a rare, life-limiting autosomal recessive neurovisceral lysosomal lipid storage disorder caused by pathogenic variants in either the *NPC1* or *NPC2* gene These genetic defects impair endolysosomal trafficking, resulting in the abnormal intracellular accumulation of unesterified cholesterol and glycosphingolipids across multiple organ systems, predominantly damaging the brain, liver, and spleen It can present at any age—from neonates to older adults—with clinical h...

These genetic defects impair endolysosomal trafficking, resulting in the abnormal intracellular accumulation of unesterified cholesterol and glycosphingolipids across multiple organ systems, predominantly damaging the brain, liver, and spleen

It can present at any age—from neonates to older adults—with clinical hallmarks that include progressive neurodegeneration, cerebellar ataxia, vertical supranuclear gaze palsy, dysarthria, dysphagia, cognitive impairment, and variable hepatosplenomegaly