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 1 P Clayton 2 P Gissen 2 M Anheim 3 Prof. Peter Bauer, MD 4, 5 O Bonnot 6 A Dardis 7 C Dionisi-Vici 8 H.H. Klünemann 9 P Latour 10 C.M. Lourenço 11 Daniel S. Ory, MD 11 A Parker 12 M Pocovi 13 M. Strupp 14 M.T. Vanier 10 M. Walterfang 15 T Marquardt 16
1 Mayo Clinic, Rochester, MN 2 University College London 3 The University Hospitals of Strasbourg 4 University Hospital of Tübingen 5 CENTOGENE AG 6 Nantes University Hospital Center 7 University Hospital of Udine, Italy 8 Bambino Gesù Children's Hospital, Rome, Italy 9 University Hospital Regensburg 10 Civil Hospices of Lyon, Bron, France 11 Ribeirão Preto Medical School, University of São Paulo 12 Addenbrooke’s Hospital, Cambridge 13 University of Zaragoza, Aragon, Spain 14 Ludwig-Maximilians-University of Munich 15 University of Melbourne 16 Westfälische Wilhelms-Universität Münster
March 19, 2018

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.