Niemann-Pick disease type C (NPC) is a rare neurovisceral lipid storage disorder resulting from autosomal recessively inherited loss-of-function mutations in eitherNpc1orNpc2. This disrupts intracellular lipid transport, leading to the accumulation of lipid products in the late endosomes and lysosomes. Affecting both children and adults, it exhibits a less rapid disease course in older patients, where it is characterised by slow cognitive decline, neuropsychiatric illness, ataxia and dystonia. As NPC is heterogeneous in presentation, it is often misdiagnosed as other movement or psychiatric disorders, highlighting the need for better awareness of this disease among clinicians. NPC is a progressive disorder and the only currently available disease-specific drug for its treatment is miglustat, which has shown positive outcomes in clinical studies. While other medications have been tested in animal models with encouraging results, they have yet to be trialled in human subjects.
Role of ACAT1-positive late endosomes in macrophages: Cholesterol metabolism and therapeutic applications for Niemann-Pick disease type C
