18– 20 In these patients, near to disease onset, hypotonia may occur subcontinuously, presenting with a characteristic “cataplectic facies” and ataxic gait, even in the absence of emotional triggers. 16 Nonetheless, slight differences in NT1 clinical and polysomnographic phenotypes have been reported at distinct life stages, and a peculiar, partially remitting cataplexy presentation has been described in pediatric patients, 9, 17– 19 consisting of a complex movement disorder with both “negative” (ie, hypotonic) and “active” (ie, hyperkinetic) motor features. Since its first description, the narcolepsy with cataplexy (now NT1) picture has been well characterized in adult patients and comprises excessive daytime sleepiness (EDS), untimely manifestations of dissociated rapid eye movement (REM) sleep (ie, cataplexy, sleep paralysis, hypnagogic/hypnopompic hallucination, REM sleep behavior disorder), 15, 16 and disrupted nocturnal sleep (DNS). 13, 14 Although the increasing awareness of narcolepsy has shortened the diagnostic gap in many countries, 7, 9 it still remains substantial in central Europe (around 8.9 years). 10– 12Īlthough the disease arises at a young age in most patients, NT1 diagnosis is usually established with a long delay, 7 negatively affecting the treatment opportunities and, consequently, the disease burden. 9 Patients with disease onset at a very early or late age, as well as positive first-degree familial history for symptoms of narcolepsy, should be regarded as red flags for symptomatic or genetic forms. NT1 onset typically occurs during adolescence and young adulthood, with a bimodal distribution (first peak at around age 15 years, second peak at age 35 years), 5, 6 and the first symptom appears during childhood (defined up to age 10 or 12 years in different studies) in at least 8%–15% of patients, 5, 7, 8 while a late occurrence is extremely rare (0.71% of patients after age 60 years). 2 NT1 is pathophysiologically linked to the selective loss of hypocretin-1-producing neurons in the hypothalamus, most likely due to an autoimmune process. Narcolepsy type 1 (NT1) is a rare, lifelong, central disorder of hypersomnolence, 1 with an estimated prevalence of 0.047% in the European population.
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