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 Pocoví, Michael Strupp, Marie T Vanier, Mark Walterfang, Thorsten Marquardt

Research output: Contribution to journalReview articlepeer-review


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
Issue number6
Publication statusPublished - Dec 2017


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