TY  - JOUR
AU  - Patterson, MC
AU  - Clayton, P
AU  - Gissen, P
AU  - Anheim, M
AU  - Bauer, P
AU  - Bonnot, O
AU  - Dardis, A
AU  - Dionisi-Vici, C
AU  - Kluenemann, H-H
AU  - Latour, P
AU  - Lourenco, CM
AU  - Ory, DS
AU  - Parker, A
AU  - Pocovi, M
AU  - Strupp, M
AU  - Vanier, MT
AU  - Walterfang, M
AU  - Marquardt, T
Y2  - 2020/12/18
Y1  - 2017/12/01
SN  - 2163-0402
UR  - http://hdl.handle.net/11343/255804
AB  - 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.
LA  - English
PB  - LIPPINCOTT WILLIAMS & WILKINS
T1  - Recommendations for the detection and diagnosis of Niemann-Pick disease type C An update
DO  - 10.1212/CPJ.0000000000000399
IS  - Neurology: Clinical Practice
VL  - 7
IS  - 6
SP  - 499-511
L1  - /bitstream/handle/11343/255804/PMC5800709.pdf?sequence=1&isAllowed=y
ER  -