Klinische Aspekte der Narkolepsie

Zusammenfassung

Die Narkolepsie ist gekennzeichnet durch die beiden Kardinalsymptome der exzessiven Tagesschläfrigkeit (excessive daytime sleepiness – EDS) und der Kataplexie. Weitere für die Erkrankungen typische und an den Rapid-Eye-Movement-Schlaf (REM-Schlaf) gekoppelte Symptome sind die Schlaflähmungen, automatisches Handeln und hypnagoge Halluzinationen. Auch die Kataplexie wird, wegen des für den REM-Schlaf typischen Tonusverlustes, dieser Gruppe zugeordnet. Die Diagnose der Narkolepsie basiert neben den Untersuchungen des Nacht-Schlafs in der Polysomnografie, sowie dem multiplen Schlaf-Latenz-Test am Tage (Multiple Sleep Latency Test – MSLT; Maintenance of Wakefulness Test – MWT) auf dem immunologischen Nachweis spezifischer HLA-Typen und dem quantitativen Nachweis des Peptides Hypokretin-1 im Liquor. Die Therapie der Narkolepsie richtet sich unter anderem nach dem vorherrschenden Symptom. Stimulanzien werden zur Behandlung der EDS eingesetzt, Antidepressiva haben vor allem Einfluss auf Kataplexien. Gammahydroxibuttersäure (GHB und dessen Salz Natrium-Oxybat) hat Einfluss auf alle Symptome der Narkolepsie. Zukünftige Therapieoptionen werden insbesondere von weiteren Erkenntnissen zur biologischen Funktion von Hypokretin abhängen.

Abstract

The main clinical features of narcolepsy are excessive daytime sleepiness (EDS) and cataplexy. Facultative symptoms are REM sleep-associated sleep paralysis, automatic movements and hypnagogic hallucinations. However, cataplexy characterised by the sudden loss of muscle tone is classified as a REM-sleep symptom. The clinical diagnosis is based on polysomnographic recording of night-time sleep, multiple sleep latency test and maintenance of wakefulness test. Laboratory findings includes specific HLA alleles and decreased level of hypocretin in the cerebrospinal fluid. Therapeutic options are individualised based on the leading symptoms. Stimulants are used to reduce excessive daytime sleepiness while antidepressants are mainly used to treat cataplexy. Gamma-hydroxybutyric acid improves cataplexy but influences also other symptoms. New therapeutic options will be based on the growing knowledge about the biological function of hypocretin.

Narkolepsie - exzessive Tagesschläfrigkeit (EDS) - Kataplexie - Polysomnografie

Narcolepsy - excessive daytime sleepiness (EDS) - cataplexy - polysomnography

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