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Hypocretin deficiency develops during onset of human narcolepsy with cataplexy.

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Abstract

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.

Sleep. 2013 Jan 1;36(1):147-8. doi: 10.5665/sleep.2320. Case Reports

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