Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages

Abstract

Background Niemann-Pick disease Type C (NP-C) is a genetic lipid storage disorder characterised by progressive neurovisceral symptomatology. Typically, disease progression is more pronounced in patients with early onset of neurological symptoms. Heterogeneous clinical presentation may hinder disease recognition and lead to delays in diagnosis. Here we describe the prevalence of signs and symptoms observed in patients with NP-C and analyse the relationship between these symptoms in different age groups. Methods The combined patient cohort used in the analyses comprised NP-C cases (n = 164) and controls (n = 135) aged 0 to 60 years from two previously published cohorts; a cohort of all ages fr..