Recommendations for the Detection and Diagnosis of Niemann-Pick Disease Type C: An Update.

Recommendations for the Detection and Diagnosis of Niemann-Pick Disease Type C: An Update

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399.


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.


  • MC Patterson
  • P Clayton
  • P Gissen
  • M Anheim
  • Dr. Peter Bauer , MD
  • O Bonnot
  • A Dardis
  • C Dionisi-Vici
  • H.H. Klünemann
  • P Latour
  • C.M. Lourenço
  • Daniel S. Ory , MD
  • A Parker
  • M Pocovi
  • M. Strupp
  • M.T. Vanier
  • M. Walterfang
  • T Marquardt


Tagged as
  • Autosomal recessive
  • Neurodegeneration
  • Niemann-Pick disease type C (NPC1)
  • Lysosomal Storage Disorders (LSD)
  • BioNPC

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