Title |
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
|
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Published in |
Neurology: Clinical Practice, December 2017
|
DOI | 10.1212/cpj.0000000000000399 |
Pubmed ID | |
Authors |
Marc C Patterson, Peter Clayton, Paul Gissen, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Andrea Dardis, Carlo Dionisi-Vici, Hans-Hermann Klünemann, Philippe Latour, Charles M Lourenço, Daniel S Ory, Alasdair Parker, Miguel Pocoví, Michael Strupp, Marie T Vanier, Mark Walterfang, Thorsten Marquardt |
Abstract |
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. 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. 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 5 | 23% |
Australia | 2 | 9% |
United Kingdom | 2 | 9% |
New Zealand | 1 | 5% |
India | 1 | 5% |
Spain | 1 | 5% |
Argentina | 1 | 5% |
Turkey | 1 | 5% |
Unknown | 8 | 36% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 15 | 68% |
Scientists | 4 | 18% |
Practitioners (doctors, other healthcare professionals) | 3 | 14% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 147 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 20 | 14% |
Student > Ph. D. Student | 18 | 12% |
Student > Bachelor | 15 | 10% |
Researcher | 10 | 7% |
Student > Master | 9 | 6% |
Other | 24 | 16% |
Unknown | 51 | 35% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 35 | 24% |
Biochemistry, Genetics and Molecular Biology | 24 | 16% |
Neuroscience | 6 | 4% |
Agricultural and Biological Sciences | 6 | 4% |
Psychology | 2 | 1% |
Other | 8 | 5% |
Unknown | 66 | 45% |