Journal article

Niemann-Pick disease type C in adulthood - A psychiatric and neurological disorder

M Walterfang, D Velakoulis

European Neurological Review | Published : 2010

Abstract

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 progr..

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