Utility of measuring CSF hypocretin-1 level in patients with suspected narcolepsy
| Autor: | Renata L. Riha, Robyn Canham, Ian Morrison, Emily L. Maschauer, Agata Gabryelska, Piotr Białasiewicz, Amber Roguski, Bartosz Szmyd |
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| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Cataplexy Excessive daytime sleepiness Polysomnography 03 medical and health sciences 0302 clinical medicine Internal medicine mental disorders medicine Humans Narcolepsy Orexins medicine.diagnostic_test Lumbar puncture business.industry Neuropeptides Intracellular Signaling Peptides and Proteins Actigraphy General Medicine medicine.disease Orexin nervous system 030228 respiratory system Sleep diary medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Sleep Medicine. 71:48-51 |
| ISSN: | 1389-9457 |
| DOI: | 10.1016/j.sleep.2020.03.009 |
| Popis: | The patho-aetiology of narcolepsy Type I (NT1) is the loss of hypocretin-1 secreting neurons in the hypothalamus. Diagnostic criteria for NT1 include excessive daytime sleepiness (EDS) for at least three months not explained by any other condition, cataplexy and cerebrospinal fluid (CSF) hypocretin-1 concentrations lower than 110 pg/ml. In this study we evaluated the utility of measuring CSF hypocretin-1 levels in patients with suspected narcolepsy (N).The study included 29 consecutively recruited patients at a tertiary sleep centre presenting with EDS for exclusion of N. All patients were examined using an extensive clinical interview followed by two weeks of actigraphy and sleep diary recordings, polysomnography (PSG) and multiple sleep latency testing (MSLT). Additionally, HLA-typing, urinary screening for substances of abuse and a lumbar puncture to measure CSF hypocretin-1 expression using radioimmunoassay were carried out.In sum, 19 patients (66%) had a CSF hypocretin-1 level110 pg/ml, of whom two had current severe depression without any features of narcolepsy except EDS. The predictive potential of hypocretin-1 measurement in diagnosing narcolepsy revealed a positive predictive value (PPV) of 89%, a specificity of 83%, with both negative predictive value (NPV) and sensitivity equal to 100%.Despite a high sensitivity and specificity, the MSLT is not always a reliable diagnostic test for narcolepsy and where this uncertainty exits, CSF hypocretin-1 concentrations110 pg/ml can be useful. However, due to a lower PPV and specificity at this cut-off, it may also not be entirely reliable as a stand-alone diagnostic test, particularly in the context of severe depression. |
| Databáze: | OpenAIRE |
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