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

  • William R. H. Evans (a1) and Chris J. Hendriksz (a2)
Summary

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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Copyright
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), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Corresponding author
Correspondence to Will Evans (willevans@nhs.net)
Footnotes
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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.

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

  • William R. H. Evans (a1) and Chris J. Hendriksz (a2)
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