Narcolepsy: an interface among neurology, immunology, sleep, and genetics

Abstract

Narcolepsy is a primary disorder of the central nervous system resulting from genetic, environmental, and immunological interactions defined as excessive daytime sleepiness plus cataplexy, hallucinations, sleep paralysis, and sleep fragmentation. The pathophysiology is not entirely known, but the interaction among genetic predisposition, environmental exposition, and immune component with consequent hypocretin-1 deficiency is the model to explain narcolepsy type I. The mechanism of narcolepsy type II is less understood. There is a delay of over ten years for the diagnosis of narcolepsy around the world. Patients with narcolepsy have many comorbidities with a negative impact on quality of life. The treatment of narcolepsy must contain an educational approach for the family, coworkers, and patients. Scheduled naps and sleep hygiene are essential to minimize the dose of medications. Much progress has been seen in the pharmacological treatment of narcolepsy with new stimulants, different presentations of oxybate, and recent studies with orexin agonists. Narcolepsy is a rare disease that needs to be more understood and highlighted to avoid delayed diagnosis and severe disabilities in patients.

Update on the diagnosis and treatment of neurological diseases

“…5 In the area of sleep, Santos Coelho presents a structured review entitled "Narcolepsy: an interface among neurology, immunology, sleep, and genetics". 6 The author reviews valuable information about this rare clinical entity, highlighting the clinical picture with excessive daytime sleepiness plus cataplexy, hallucinations, sleep paralysis, and sleep fragmentation, as well as the pathophysiological mechanism, with the consequent hypocretin-1 deficiency. 6 Finally, in the area of neuroradiology, Carvalho Macruz and colleagues present the article entitled "The new era of artificial intelligence in neuroradiology: current research and promising tools."…”

“…6 The author reviews valuable information about this rare clinical entity, highlighting the clinical picture with excessive daytime sleepiness plus cataplexy, hallucinations, sleep paralysis, and sleep fragmentation, as well as the pathophysiological mechanism, with the consequent hypocretin-1 deficiency. 6 Finally, in the area of neuroradiology, Carvalho Macruz and colleagues present the article entitled "The new era of artificial intelligence in neuroradiology: current research and promising tools." 7 This interesting review explores the use of artificial intelligence in this area of neurology, which is most conducive to it, including a discussion of digital workflow, standardized protocols for image storage, and several well-defined interpretative activities.…”