Luca, Gianina and Haba-Rubio, Jose and Dauvilliers, Yves and Lammers, Gert-Jan and Overeem, Sebastiaan and Donjacour, Claire E. and Mayer, Geert and Javidi, Sirous and Iranzo, Alex and Santamaria, Joan and Peraita-Adrados, Rosa and Hor, Hyun and Kutalik, Zoltan and Plazzi, Giuseppe and Poli, Francesca and Pizza, Fabio and Arnulf, Isabelle and Lecendreux, Michel and Bassetti, Claudio and Mathis, Johannes and Heinzer, Raphael and Jennum, Poul and Knudsen, Stine and Geisler, Peter and Wierzbicka, Aleksandra and Feketeova, Eva and Pfister, Corinne and Khatami, Ramin and Baumann, Christian and Tafti, Mehdi and Nn, Eu (2013) Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. JOURNAL OF SLEEP RESEARCH, 22 (5). pp. 482-495. ISSN 0962-1105, 1365-2869
Full text not available from this repository. (Request a copy)Abstract
The aim of this study was to describe the clinical and PSG characteristics of narcolepsy with cataplexy and their genetic predisposition by using the retrospective patient database of the European Narcolepsy Network (EU-NN). We have analysed retrospective data of 1099 patients with narcolepsy diagnosed according to International Classification of Sleep Disorders-2. Demographic and clinical characteristics, polysomnography and multiple sleep latency test data, hypocretin-1 levels, and genome-wide genotypes were available. We found a significantly lower age at sleepiness onset (men versus women: 23.74 +/- 12.43 versus 21.49 +/- 11.83, P=0.003) and longer diagnostic delay in women (men versus women: 13.82 +/- 13.79 versus 15.62 +/- 14.94, P=0.044). The mean diagnostic delay was 14.63 +/- 14.31years, and longer delay was associated with higher body mass index. The best predictors of short diagnostic delay were young age at diagnosis, cataplexy as the first symptom and higher frequency of cataplexy attacks. The mean multiple sleep latency negatively correlated with Epworth Sleepiness Scale (ESS) and with the number of sleep-onset rapid eye movement periods (SOREMPs), but none of the polysomnographic variables was associated with subjective or objective measures of sleepiness. Variant rs2859998 in UBXN2B gene showed a strong association (P=1.28E-07) with the age at onset of excessive daytime sleepiness, and rs12425451 near the transcription factor TEAD4 (P=1.97E-07) with the age at onset of cataplexy. Altogether, our results indicate that the diagnostic delay remains extremely long, age and gender substantially affect symptoms, and that a genetic predisposition affects the age at onset of symptoms.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SLEEP LATENCY TEST; ONSET REM PERIODS; QUALITY-OF-LIFE; INTERNATIONAL-CLASSIFICATION; NEUROLOGICAL CONDITIONS; IDIOPATHIC HYPERSOMNIA; PARKINSONS-DISEASE; ICSD-2 CRITERIA; TEST MSLT; DIAGNOSIS; age at onset; diagnostic delay; gender; genome-wide association |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Psychiatrie und Psychotherapie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 30 Mar 2020 09:51 |
| Last Modified: | 30 Mar 2020 09:51 |
| URI: | https://pred.uni-regensburg.de/id/eprint/15948 |
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