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 -