A Study of the Diagnostic Utility of HLA Typing, CSF Hypocretin-1 Measurements, and MSLT Testing for the Diagnosis of Narcolepsy in 163 Korean Patients With Unexplained Excessive Daytime Sleepiness

作者：Seung‐Chul Hong, Ling Lin, Jong‐Hyun Jeong, Yoon-Kyung Shin, Jin‐Hee Han, Ji–Hyun Lee, Sung-Pil Lee, Jing Zhang, Mali A. Einen, Emmanuel Jean-Marie Mignot · 发表于：SLEEP · 年份：2006 · DOI：10.1093/sleep/29.11.1429 · 被引用次数：63 · 研究领域：Sleep and Wakefulness Research、Sleep and related disorders、Restless Legs Syndrome Research

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 patients with unexplained sleepiness and 282 controls recruited at St. Vincent's Hospital, Korea. The gold standard for diagnosis was ICSD-2 criteria. Patients and controls completed the Stanford Sleep Inventory, and agreed to HLA typing. Polysomnography (87%), Multiple Sleep Latency Test (MSLT) (96%), and CSF hypocretin-1 measurements (53%) were conducted in patients. MEASUREMENTS AND RESULTS: Most patients (80%) could be classified using the ICSD-2. The 33 patients who could not be classified were without cataplexy (4 with low CSF hypocretin-1). These could not be included because of sleep apnea (apnea-hypopnea index > or = 5/h, 84%) and/or because sleep prior to MSLT was less than 6 hours (27%). Narcolepsy with cataplexy cases were 92% HLA positive with low hypocretin-1. Cataplexy at interview was predicted by validated Stanford Sleep Inventory questions regarding cataplexy triggers. In contrast, cataplexy-like events were frequently reported in all groups, including controls. Cases with narcolepsy without cataplexy were frequently men (73%) and heterogeneous biologically (36% HLA positive, 40% with low CSF hypocretin-1). None...