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.
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.
Authors
- 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