Declaration of interest W.R.H.E. is a trustee of NP-UK and C.J.H is Director of FYMCA Medical and consultant for Amicus, Alexion, Actelion, BioMarin, Sanofi Genzyme and Shire.
Niemann–Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options.
- © 2016 The Authors
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