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Article Dans Une Revue Neurology: Clinical Practice Année : 2017

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

Olivier Bonnot
Daniel Ory

Résumé

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.

Dates et versions

hal-03691173 , version 1 (08-06-2022)

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Marc Patterson, Peter Clayton, Ppaul Gissen, Mathieu Anheim, Peter Bauer, et al.. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Neurology: Clinical Practice, 2017, 7 (6), pp.499-511. ⟨10.1212/CPJ.0000000000000399⟩. ⟨hal-03691173⟩
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