Dauvilliers Yves, Bazin Marcel, Ondzé Basile, Bera Odile, Bazin Maryse, Besset Alain, Billiard Michel
Sleep and Wake Disorder Center Neurology B Unit, Gui-de-Chauliac Hospital, Montpellier, France.
Sleep. 2002 Feb 1;25(1):50-5. doi: 10.1093/sleep/25.1.50.
The aim of the study was to describe the clinical and polygraphical characteristics of narcoleptics, with and without cataplexy and to assess HLA predisposition across two different ethnic populations.
Patients were 126 men and 58 women referred to the Montpellier Sleep Disorders Center (Mtp) and 12 men and 8 women referred to the Fort-de-France Sleep Disorders Center (FdF) (Martinique, a French West Indy island) with symptoms of narcolepsy.
Narcoleptics were included if they had both excessive daytime sleepiness and clear-cut cataplexy (for the group with cataplexy), a mean sleep latency of less than 8 minutes and at least two sleep onset REM periods.
N/A.
Narcolepsy without clear-cut cataplexy was rare (12/172) in the Mtp population whereas it was as frequent as full-blown narcolepsy (10/10) in the FdF population. Comparison between narcoleptics with cataplexy from the Mtp and FdF populations revealed a younger age of onset, a trend towards more severe sleepiness and lower frequency of cataplexy in Martinicans. Comparison between narcoleptics without cataplexy from the Mtp and FdF population revealed a higher frequency of hypnagogic hallucinations and sleep paralysis and a trend towards more severe sleepiness in Martinicans. 4.2% of the Mtp and 15% of the FdF patients were negative for HLA DR2. However all of them were positive for HLA DQ1. Moreover, a tight association with HLA DRB11503 was observed in Martinicans in contrast with DRB11501 in the Mtp population. Association with HLA DQB1*0602 was observed in 99.4% of narcoleptics with cataplexy and in 89.5% of those without cataplexy.
Narcolepsy is a heterogeneous clinical syndrome, the more so as ethnic origins are considered. A modulating effect of HLA and non-HLA genes on symptoms disease may explain these differences.
本研究旨在描述发作性睡病患者(伴或不伴猝倒)的临床和多导睡眠图特征,并评估两个不同种族人群中的HLA易感性。
患者包括126名男性和58名女性,他们被转诊至蒙彼利埃睡眠障碍中心(Mtp),以及12名男性和8名女性,他们被转诊至法兰西堡睡眠障碍中心(FdF)(马提尼克岛,法属西印度群岛的一个岛屿),均有发作性睡病症状。
如果发作性睡病患者有日间过度嗜睡且有明确的猝倒(对于有猝倒的组)、平均睡眠潜伏期小于8分钟且至少有两个睡眠起始快速眼动期,则纳入研究。
无。
在Mtp人群中,无明确猝倒的发作性睡病很少见(12/172),而在FdF人群中,其发生率与典型发作性睡病一样高(10/10)。对Mtp和FdF人群中有猝倒的发作性睡病患者进行比较发现,马提尼克岛患者发病年龄更小,嗜睡程度更严重的趋势更明显,猝倒频率更低。对Mtp和FdF人群中无猝倒的发作性睡病患者进行比较发现,马提尼克岛患者入睡前幻觉和睡眠麻痹的发生率更高,嗜睡程度更严重的趋势更明显。Mtp患者中有4.2%、FdF患者中有15%的HLA DR2呈阴性。然而,他们所有的HLA DQ1均为阳性。此外,与Mtp人群中的DRB11501相比,在马提尼克岛人群中观察到与HLA DRB11503有紧密关联。在99.4%有猝倒的发作性睡病患者和89.5%无猝倒的发作性睡病患者中观察到与HLA DQB1*0602有关联。
发作性睡病是一种异质性临床综合征,考虑到种族起源时更是如此。HLA和非HLA基因对症状性疾病的调节作用可能解释了这些差异。