Recommendations for the detection and diagnosis of Niemann-Pick disease type C An update
AuthorPatterson, MC; Clayton, P; Gissen, P; Anheim, M; Bauer, P; Bonnot, O; Dardis, A; Dionisi-Vici, C; Kluenemann, H-H; Latour, P; ...
Source TitleNeurology: Clinical Practice
PublisherLIPPINCOTT WILLIAMS & WILKINS
University of Melbourne Author/sWalterfang, Mark
Document TypeJournal Article
CitationsPatterson, M. C., Clayton, P., Gissen, P., Anheim, M., Bauer, P., Bonnot, O., Dardis, A., Dionisi-Vici, C., Kluenemann, H. -H., Latour, P., Lourenco, C. M., Ory, D. S., Parker, A., Pocovi, M., Strupp, M., Vanier, M. T., Walterfang, M. & Marquardt, T. (2017). Recommendations for the detection and diagnosis of Niemann-Pick disease type C An update. NEUROLOGY-CLINICAL PRACTICE, 7 (6), pp.499-511. https://doi.org/10.1212/CPJ.0000000000000399.
Access StatusOpen Access
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.
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