3– 7 While a single mutation in hypocretin genes has been found in one patient with atypical narcolepsy, undetectable levels of CSF hypocretin-1 were reported in most patients with sporadic narcolepsy 7– 9 and a dramatic decrease of hypocretin neurones in a few postmortem narcoleptic brains. 1 Although narcolepsy has been known as a distinct clinical entity for more than a century, 2 it was only recently that a major discovery in its pathophysiology was made through the identification of orexin/hypocretin deficiency. Narcolepsy is characterised by two major symptoms, excessive daytime sleepiness (EDS) and cataplexy and other manifestations of abnormal rapid eye movement (REM) sleep. ICSD, international classification of sleep disorders.The existence of normal hypocretin levels in narcoleptic patients and intermediate levels in other rare aetiologies needs further investigation, especially for KLS, to establish the functional significance of hypocretin neurotransmission alterations. However, partial hypocretin lesions without low CSF hypocretin-1 consequences cannot be definitely excluded in those disorders. Hypocretin ligand deficiency appears not to be the major cause for other hypersomnias, with a possible continuum in the pathophysiology of narcolepsy without cataplexy and idiopathic hypersomnia. Among the patients without hypersomnia, two patients with normal pressure hydrocephalus and one with unclear central vertigo had intermediate levels.Ĭonclusion: Low CSF hypocretin-1 is highly specific (99.1%) and sensitive (88.5%) for narcolepsy with cataplexy. The KLS patients had normal hypocretin levels while asymptomatic, but one KLS patient (also affected with Prader-Willi syndrome) showed a twofold decrease in hypocretin levels during a symptomatic episode. One patient affected with post-traumatic hypersomnia had intermediate hypocretin levels. One narcoleptic patient without cataplexy had a low hypocretin level. Results: 23 patients with narcolepsy-cataplexy had low CSF hypocretin-1 levels, while one patient had a normal hypocretin level (HLA-DQB1*0602 negative) and the other two had intermediate levels (familial forms). Patients: 26 narcoleptic patients with cataplexy, 9 narcoleptic patients without cataplexy, 2 patients with abnormal REM-sleep-associated hypersomnia, 7 patients with idiopathic hypersomnia, 2 patients with post-traumatic hypersomnia, 4 patients with KLS, and 88 patients with other neurological disorders. Submitted comments are subject to editing and editor review prior to posting.Objective: To determine the role of CSF hypocretin-1 in narcolepsy with and without cataplexy, Kleine-Levin syndrome (KLS), idiopathic and other hypersomnias, and several neurological conditions.Read any comments already posted on the article prior to submission. Submit only on articles published within 6 months of issue date.(Exception: original author replies can include all original authors of the article)
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