Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

Marc C. Patterson, Peter Clayton, Paul Gissen, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Andrea Dardis, Carlo Dionisi-Vici, Hans Hermann Klünemann, Philippe Latour, Charles M. Lourenço, Daniel S. Ory, Alasdair Parker, Miguel Pocovi, Michael Strupp, Marie T. Vanier, Mark Walterfang, Thorsten Marquardt

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41 Scopus citations

Abstract

Purpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice. Recent findings: New biomarker profiling and genetic analysis technologies are included as first-line diagnostic tests for NP-C. Most diagnoses can now be confirmed by combination of biomarker and genetic analyses. Filipin staining may facilitate diagnosis in uncertain cases. Recommendations are provided for psychiatrists, neuro-ophthalmologists, and radiologists, and on screening within specific at-risk patient cohorts. The NP-C diagnostic algorithm has been updated and simplified. Summary: This publication provides expert recommendations for clinicians who may see patients presenting with the signs and symptoms of NP-C, including general practitioners, pediatricians, neurologists, and psychiatrists.

Original languageEnglish
Pages (from-to)499-511
Number of pages13
JournalNeurology: Clinical Practice
Volume7
Issue number6
DOIs
StatePublished - Jan 1 2017

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    Patterson, M. C., Clayton, P., Gissen, P., Anheim, M., Bauer, P., Bonnot, O., Dardis, A., Dionisi-Vici, C., Klünemann, H. H., Latour, P., Lourenço, C. M., Ory, D. S., Parker, A., Pocovi, M., Strupp, M., Vanier, M. T., Walterfang, M., & Marquardt, T. (2017). Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Neurology: Clinical Practice, 7(6), 499-511. https://doi.org/10.1212/CPJ.0000000000000399