Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired
intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in
the brain and other tissues. It is characterized clinically by a variety of progressive, disabling
neurological symptoms including clumsiness, limb and gait ataxia, dysarthria, dysphagia
and cognitive deterioration (dementia). Until recently, there has been no disease-modifying
therapy available for NP-C, with treatment limited to supportive measures. In most countries …