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Publications about genetic testing for metabolic disorders
  1. 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.

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
March 19, 2018

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.