5 Facts you should know about

Niemann-Pick disease type C

NPC manifests with a wide range of clinical symptoms, making diagnosis challenging

Approximately 95% of Niemann–Pick type C cases are caused by genetic mutations in the NPC1 gene

NPC disease primarily affects the nervous system, leading to symptoms such as ataxia, dystonia, and cognitive decline

It is also a systemic disorder, causing hepatosplenomegaly, lung and liver dysfunction, and other systemic manifestations

Recent research has highlighted the involvement of heat shock proteins (HSPs) in NPC

Rare Neurology News