Recommendations for the detection and diagnosis of Niemann-Pick disease type C An update
dc.contributor.author | Patterson, MC | |
dc.contributor.author | Clayton, P | |
dc.contributor.author | Gissen, P | |
dc.contributor.author | Anheim, M | |
dc.contributor.author | Bauer, P | |
dc.contributor.author | Bonnot, O | |
dc.contributor.author | Dardis, A | |
dc.contributor.author | Dionisi-Vici, C | |
dc.contributor.author | Kluenemann, H-H | |
dc.contributor.author | Latour, P | |
dc.contributor.author | Lourenco, CM | |
dc.contributor.author | Ory, DS | |
dc.contributor.author | Parker, A | |
dc.contributor.author | Pocovi, M | |
dc.contributor.author | Strupp, M | |
dc.contributor.author | Vanier, MT | |
dc.contributor.author | Walterfang, M | |
dc.contributor.author | Marquardt, T | |
dc.date.accessioned | 2020-12-18T03:31:20Z | |
dc.date.available | 2020-12-18T03:31:20Z | |
dc.date.issued | 2017-12-01 | |
dc.identifier | pii: NEURCLINPRACT2017021501 | |
dc.identifier.citation | Patterson, 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. | |
dc.identifier.issn | 2163-0402 | |
dc.identifier.uri | http://hdl.handle.net/11343/255804 | |
dc.description.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. | |
dc.language | English | |
dc.publisher | LIPPINCOTT WILLIAMS & WILKINS | |
dc.title | Recommendations for the detection and diagnosis of Niemann-Pick disease type C An update | |
dc.type | Journal Article | |
dc.identifier.doi | 10.1212/CPJ.0000000000000399 | |
melbourne.affiliation.department | Psychiatry | |
melbourne.source.title | Neurology: Clinical Practice | |
melbourne.source.volume | 7 | |
melbourne.source.issue | 6 | |
melbourne.source.pages | 499-511 | |
dc.rights.license | CC BY-NC-ND | |
melbourne.elementsid | 1305682 | |
melbourne.contributor.author | Walterfang, Mark | |
dc.identifier.eissn | 2163-0933 | |
melbourne.accessrights | Open Access |
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