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Hypocretin Deficiency Develops During Onset of Human Narcolepsy with Cataplexy
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
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.
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).
We confirm that hypocretin deficiency develops in parallel to the onset of human narcolepsy with cataplexy.
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.