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Review
. 2017 Apr;41(2):109-114.
doi: 10.1192/pb.bp.116.054072.

Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment

William R H Evans  1 , Chris J Hendriksz  2
Affiliations
Review

Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment

William R H Evans et al. BJPsych Bull. 2017 Apr.

Abstract

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.

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Conflict of interest statement

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.

Figures

Fig. 1
Fig. 1
Visceral and neurological manifestations in Niemann–Pick type C disease. Reprinted from Patterson et al, copyright 2012, with permission from Elsevier.
See this image and copyright information in PMC

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