Mali A Einen

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Narcolepsy with cataplexy, characterized by sleepiness and rapid onset into REM sleep, affects 1 in 2,000 individuals. Narcolepsy was first shown to be tightly associated with HLA-DR2 (ref. 3) and later sublocalized to DQB1*0602 (ref. 4). Following studies in dogs and mice, a 95% loss of hypocretin-producing cells in postmortem hypothalami from narcoleptic(More)
The association of narcolepsy with HLA-DQB1*0602 is established in Japanese, African-Americans, European, and North American Caucasians. We examined DRB1, DRB3, DRB4, DRB5, DQA1, and DQB1 in 163 patients with centrally mediated daytime sleepiness (100 with narcolepsy) and 211 Korean controls. In this population, the DQB1*0602 association was always evident(More)
Growing evidence supports the hypothesis that narcolepsy with cataplexy is an autoimmune disease. We here report genome-wide association analyses for narcolepsy with replication and fine mapping across three ethnic groups (3,406 individuals of European ancestry, 2,414 Asians and 302 African Americans). We identify a SNP in the 3' untranslated region of(More)
STUDY OBJECTIVES To compare clinical, electrophysiologic, and biologic data in narcolepsy without cataplexy with low (≤ 110 pg/ml), intermediate (110-200 pg/ml), and normal (> 200 pg/ml) concentrations of cerebrospinal fluid (CSF) hypocretin-1. SETTING University-based sleep clinics and laboratories. PATIENTS Narcolepsy without cataplexy (n = 171) and(More)
STUDY OBJECTIVE to report on symptoms and therapies used in childhood narcolepsy-cataplexy. DESIGN, PATIENTS, AND SETTING retrospective series of 51 children who completed the Stanford Sleep Inventory. HLA-DQB1*0602 typing (all tested, and 100% positive), polysomnography or Multiple Sleep Latency Test (76%), and cerebrospinal fluid hypocretin-1(More)
STUDY OBJECTIVE To study DQB1*0602 status and hypocretin-1 levels in the cerebrospinal fluid (CSF) in a cohort of patients with hypersomnolence and to test International Classification of Sleep Disorders-2 (ICSD-2) criteria for hypersomnia of central origin. DESIGN Retrospective case series. PATIENTS AND SETTING One hundred sixty-three consecutive(More)
Joachim Hallmayer1,*, Juliette Faraco1,*, Ling Lin1, Stephanie Hesselson2, Juliane Winkelmann3,4,5, Minae Kawashima1,6, Geert Mayer7,8, Guiseppe Plazzi9, Sona Nevsimalova10, Patrice Bourgin11, Shengshul Hong12, Yutaka Honda13, Makoto Honda13, Birgit Högl14, William T Longstreth Jr15, Jacques Montplaisir16, David Kemlink10, Mali Einen1, Justin Chen2, Stacy L(More)
OBJECTIVE To explore whether acute destruction of hypocretin cells in a patient with narcolepsy could be detected and if the course of the disease could be reversed or altered by the use of prednisone for immunosuppression. DESIGN Case report. SETTING A sleep-clinic population in a tertiary-care hospital. PATIENT An 8-year-old boy with a very acute(More)
STUDY OBJECTIVE To determine if hypocretin deficiency is associated with abnormally low serum leptin levels, a putative cause of increased body mass index in narcoleptics. DESIGN Cross-sectional controlled study. PARTICIPANTS Three hundred seventy subjects, including 111 healthy controls, 93 narcoleptic subjects with hypocretin deficiency (cerebrospinal(More)