Evans, William R.H.Hendriksz, Christian J.2018-07-252018-07-252017Evans, W.R.H. & Hendriksz, C.J. 2017, 'Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment', Psychological Bulletin, vol. 41, no. 2, pp. 109-114.0033-2909 (print)1939-1455 (online)10.1192/pb.bp.116.054072http://hdl.handle.net/2263/65975Niemann-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.en© 2017 The Authors. This is an open-access article published by the Royal College of Psychiatrists and distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/ 4.0).PatientsTreatmentNiemann-Pick type C (NP-C)AwarenessNeurodegenerative lysosomal storage disorderPathophysiologyNeuropsychiatric presentationArticle