Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands.
Sleep-Wake Center, Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands.
Sleep. 2022 May 12;45(5). doi: 10.1093/sleep/zsac052. Epub 2022 Mar 7.
The diagnosis of narcolepsy type 1 (NT1) is based upon the presence of cataplexy and/or a cerebrospinal fluid (CSF) hypocretin-1/orexin-A level ≤ 110 pg/mL. We determined the clinical and diagnostic characteristics of patients with intermediate hypocretin-1 levels (111-200 pg/mL) and the diagnostic value of cataplexy characteristics in individuals with central disorders of hypersomnolence.
Retrospective cross-sectional study of 355 people with known CSF hypocretin-1 levels who visited specialized Sleep-Wake Centers in the Netherlands. For n = 271, we had full data on cataplexy type ("typical" or "atypical" cataplexy).
Compared to those with normal hypocretin-1 levels (>200 pg/mL), a higher percentage of individuals with intermediate hypocretin-1 levels had typical cataplexy (75% or 12/16 vs 9% or 8/88, p < .05), and/or met the diagnostic polysomnographic (PSG) and Multiple Sleep Latency Test (MSLT) criteria for narcolepsy (50 vs 6%, p < .001). Of those with typical cataplexy, 88% had low, 7% intermediate, and 5% normal hypocretin-1 levels (p < .001). Atypical cataplexy was also associated with hypocretin deficiency but to a lesser extent. A hypocretin-1 cutoff of 150 pg/mL best predicted the presence of typical cataplexy and/or positive PSG and MSLT findings.
Individuals with intermediate hypocretin-1 levels or typical cataplexy more often have outcomes fitting the PSG and MSLT criteria for narcolepsy than those with normal levels or atypical cataplexy. In addition, typical cataplexy has a much stronger association with hypocretin-1 deficiency than atypical cataplexy. We suggest increasing the NT1 diagnostic hypocretin-1 cutoff and adding the presence of clearly defined typical cataplexy to the diagnostic criteria of NT1. Clinical trial information: This study is not registered in a clinical trial register, as it has a retrospective database design.
1 型发作性睡病（NT1）的诊断基于猝倒和/或脑脊液（CSF）中下丘脑泌素-1/食欲素 A 水平≤110pg/mL。我们确定了下丘脑泌素-1 水平处于中间范围（111-200pg/mL）的患者的临床和诊断特征，以及在中枢性嗜睡障碍患者中猝倒特征的诊断价值。
对荷兰专门的睡眠-觉醒中心就诊的 355 名已知 CSF 下丘脑泌素-1 水平的患者进行回顾性横断面研究。对于 n=271，我们有完整的猝倒类型数据（“典型”或“非典型”猝倒）。
与下丘脑泌素-1 水平正常（>200pg/mL）的患者相比，下丘脑泌素-1 水平处于中间范围的患者中具有更高比例的典型猝倒（75%或 12/16 比 9%或 8/88，p<0.05），并且/或符合发作性睡病的诊断性多导睡眠图（PSG）和多次小睡潜伏试验（MSLT）标准（50%比 6%，p<0.001）。在具有典型猝倒的患者中，88%的下丘脑泌素-1 水平较低，7%的下丘脑泌素-1 水平中等，5%的下丘脑泌素-1 水平正常（p<0.001）。非典型猝倒也与下丘脑泌素缺乏有关，但程度较轻。下丘脑泌素-1 截断值为 150pg/mL 时，可最好地预测典型猝倒和/或阳性 PSG 和 MSLT 发现的存在。
下丘脑泌素-1 水平处于中间范围或具有典型猝倒的患者更符合 PSG 和 MSLT 对发作性睡病的诊断标准，而下丘脑泌素-1 水平正常或具有非典型猝倒的患者则不符合。此外，典型猝倒与下丘脑泌素-1 缺乏的相关性远强于非典型猝倒。我们建议增加 NT1 诊断下丘脑泌素-1 截断值，并将明确定义的典型猝倒添加到 NT1 的诊断标准中。临床试验信息：本研究未在临床试验注册中心注册，因为它采用回顾性数据库设计。
