Powerpoint narcolepsy with cataplexy12/4/2023 Narcolepsy was first described by Westphal in 1877 and named by Gélineáu in 1880. We expect that future genomic research will provide important contributions to our understanding of the genetic basis and pathogenesis of narcolepsy. The currently identified loci cannot explain the heritability of narcolepsy (NT1 and NT2). However, several studies have revealed loci that increase susceptibility to NT2. NT2 is also a complex disorder, but its underlying genetic architecture is poorly understood. Rare variants associated with NT1 have also been identified by DNA genome sequencing. Genome-wide association studies have uncovered >10 genomic variations associated with NT1. Almost all patients with NT1 carry the specific human leukocyte antigen (HLA) allele HLA-DQB1 * 06:02. NT1 is a multifactorial disease, and genetic variations at multiple loci are associated with NT1. Except for cataplexy, NT2 exhibits most of the same symptoms as NT1. NT1 is characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis and is caused by a marked reduction in neurons in the hypothalamus that produce orexin (hypocretin), which is a wakefulness-associated neuropeptide. ![]() Currently, narcolepsy is subdivided into two types according to the International Classification of Sleep Disorders, 3rd edition: narcolepsy type 1 (NT1) and narcolepsy type 2 (NT2). ![]() Narcolepsy is a term that was initially coined by Gélineáu in 1880 and is a chronic neurological sleep disorder that manifests as a difficulty in maintaining wakefulness and sleep for long periods.
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