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VOLUME 36, ISSUE 01

SHORT NOTE
Hypocretin Deficiency Develops During Onset of Human Narcolepsy with Cataplexy

http://dx.doi.org/10.5665/sleep.2320

Andri Savvidou, MD1; Stine Knudsen, MD, PhD2; Mia Olsson-Engman, MD1; Steen Gammeltoft, MD3; Poul Jennum, MD2; Lars Palm, MD, PhD4

1Paediatric Department, Blekinge Hospital, Karlskrona, Sweden; 2Danish Center for Sleep Medicine, University of Copenhagen, Glostrup Hospital, Denmark; 3Department of Clinical Biochemistry, University of Copenhagen, Glostrup Hospital, Denmark; 4 Section for Paediatric Neurology, Department of Paediatrics, Skåne University Hospital, Malmö, Sweden



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Study Objectives:

Although hypothesized through animal studies, a temporal and causal association between hypocretin deficiency and the onset of narcolepsy with cataplexy (NC) has never been proven in humans.

Setting:

Paediatric Department, Blekinge Hospital, Sweden, and Danish Center for Sleep Medicine, Glostrup Hospital, Denmark.

Patient and Results:

Two weeks after his second Pandemrix-vaccination, a 10 year old HLA-DQB1*0602-positive boy developed NC. The CSF hypocretin-1 level was 10 pg/ml. However, CSF saved from a pre-narcolepsy episode of Lyme disease revealed a normal hypocretin-1 level (318 pg/ml).

Conclusions:

We confirm that hypocretin deficiency develops in parallel to the onset of human narcolepsy with cataplexy.

Citation:

Savvidou A; Knudsen S; Olsson-Engman M; Gammeltoft S; Jennum P; Palm L. Hypocretin deficiency develops during onset of human narcolepsy with cataplexy. SLEEP 2013;36(1):147-148.

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