Narcolepsy is an autoimmune disorder that affects approximately between 0.02 – 0.05% of the population worldwide. Narcoleptic patients frequently have severe sleepiness and commonly have fragments of Rapid Eye Movement (REM) sleep that intrude into wakefulness, such as hypnagogic (dream-like) hallucinations as they drift off to sleep, as well as brief episodes of cataplexy (muscle paralysis) triggered by strong emotions.
One of the most important breakthroughs in elucidating the cause of narcolepsy came with the discovery of hypocretins (orexins). Hypocretin-secreting neurons from the lateral hypothalamus (LH) throughout the central nervous system (CNS) to neurons involved in the regulation of feeding, sleep-wakefulness, neuroendocrine homeostasis, and autonomic regulation. The loss of hypocretin has also been reported by numerous clinical studies of narcoleptic individuals. The importance of the immune system and its potential role in the onset of narcolepsy has been the focus of research and debate for many years. With more than 98% of narcoleptic patients with low cerebrospinal fluid hypocretin-1 carrying HLA-DQB1*06:02, frequently in combination with HLA DRB1*15:01, narcolepsy has one of the strongest known associations with HLA.
GENVINSET® HLA NARCOLEPSY is a kit for the determination of the HLA-DQB1*06:02 group of alleles, by Real Time PCR using TaqMan® probes technology.