![]() Attention-deficit hyperactivity disorder Sleep disorders (Restless legs syndrome, sleep apnea, parasomnias) ![]() Overweight, weight gain at disease onset Sleep-related hallucinations (visual, auditory, tactile) Nightmares, vivid dreaming, enactment of dreams sleep attacks, involuntary napping, automatic behavior) In other cases, a progressive course occurs with symptom onset separated by several years, sometimes more than 30. Fluctuations can be present on a daily, weekly, or even monthly basis. After consolidation of symptoms, the course usually maintains stable, but also some fluctuations of all or single symptoms is possible. Cataplexy develops after EDS in approximately 40–60% and is only rarely present as first symptom before EDS. In most cases, EDS is the first symptom and is simultaneously presenting with cataplexy (see Fig. Often, narcolepsy has an acute or subacute course with symptoms developing within months or few years (< 3 years). Phenotypes of narcolepsy can be very diverse and include narcolepsy type 1 (NT1) with typical cataplexy that can present with decreased CSF levels of HCRT (in >90% of cases) or without any biological markers, and narcolepsy type 2 (NT2) without cataplexy but with some biological markers (such as sleep-onset REM periods). In rare cases, symptomatic narcolepsy can manifest in patients with multiple sclerosis lesions or brain tumors. In almost all patients, EDS is present, whereas other symptoms can be present in different frequencies and variable combinations (see Box 1). Narcolepsy is a disease of state (wakefulness-REM sleep-NREM sleep) boundary control. The purpose of this review is to provide an update on the current knowledge of narcolepsy and to present perspectives for the future. Despite this progress, however, many old questions remain unanswered and still are part of current discussions. Findings of hypocretin (HCRT), also named orexin, deficiency in cerebrospinal fluid (CSF), and recent data on the involvement of the immune system in narcolepsy opened research for new diagnostic and treatment options. In the last decades, significant advances have been made in the understanding of the etiology, pathogenesis, symptomatology, clinical course, diagnosis, and management of the disease. It took until 1975 for the first consensus definition of narcolepsy, which was elaborated at the First International Symposium on Narcolepsy in France. It was in 1956 that Yoss and Daly described the classic narcoleptic tetrad of narcolepsy: excessive daytime sleepiness (EDS), cataplexy, hypnagogic hallucinations, and sleep paralysis. In the following decades, a discussion about the entity of narcolepsy started as to whether narcolepsy was a specific disease entity or a heterogeneous syndrome (“the narcolepsies”). But the first documentations of irresistible daytime sleepiness and also of brief episodes of loss of muscle tone triggered by emotions were published only in the late nineteenth century. Physicians have noted cases with excessive sleepiness for centuries. ![]() Recent evidence on the potential immune-mediated mechanisms that may underpin the disease establishment and progression are also highlighted. This review describes the current knowledge of clinical presentation and pathology of narcolepsy as well as the existing diagnostic criteria and therapeutic intervention for the disease management. However, significant advances have been made in the last years, thus opening new perspective in the field. Diagnosis and management of narcolepsy represent still a substantial medical challenge due to the large heterogeneity in the clinical manifestation of the disease as well as to the lack of understanding of the underlying pathophysiological mechanisms. The disease is considered to be the result of the selective disruption of neuronal cells in the lateral hypothalamus expressing the neuropeptide hypocretin, which controls the sleep-wake cycle. Narcolepsy is a rare chronic neurological disorder characterized by an irresistible excessive daytime sleepiness and cataplexy.
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