Kumar Swarup, Sagili Haritha
Intern, Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER) , India.
Associate Professor, Department of Obstetrics and Gynaecology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER) , India .
J Clin Diagn Res. 2014 Feb;8(2):190-5. doi: 10.7860/JCDR/2014/7295.4057. Epub 2013 Dec 27.
Narcolepsy is a chronic lifelong sleep disorder and it often leaves a debilitating effect on the quality of life of the sufferer. This disorder is characterized by a tetrad of excessive daytime sleepiness, cataplexy (brief loss of muscle tone following strong emotion), hypnogogic hallucinations and sleep paralysis. There are two distinct subgroups of Narcolepsy: Narcolepsy with cataplexy and Narcolepsy without cataplexy. For over 100 years, clinicians have recognised narcolepsy, but only in the last few decades have scientists been able to shed light on the true cause and pathogenesis of narcolepsy. Recent studies have shown that a loss of the hypothalamic neuropeptide Hypocretin/Orexincauses Narcolepsy with cataplexy and that an autoimmune mechanism may be responsible for this loss. Our understanding of the neurophysiologic aspect of narcolepsy has also significantly improved. The basic neural mechanisms behind sleepiness and cataplexy, the two defining symptoms of narcolepsy have started to become clearer. In this review, we have provided a detailed account of the key aspects of etiopathogenesis and neurobiology of narcolepsy, along with a critical appraisal of the more recent and interesting causal associations.We have also looked at the contributions of neuroimaging to the etiopathogenesis of Narcolepsy.
发作性睡病是一种慢性终身性睡眠障碍,常对患者的生活质量产生严重影响。这种疾病的特征是由白天过度嗜睡、猝倒(强烈情绪后短暂的肌肉张力丧失)、入睡前幻觉和睡眠麻痹组成的四联症。发作性睡病有两个不同的亚组:伴猝倒的发作性睡病和不伴猝倒的发作性睡病。100多年来,临床医生已经认识到发作性睡病,但直到最近几十年,科学家们才能够阐明发作性睡病的真正病因和发病机制。最近的研究表明,下丘脑神经肽食欲素/下丘脑泌素的缺失会导致伴猝倒的发作性睡病,并且自身免疫机制可能是导致这种缺失的原因。我们对发作性睡病神经生理学方面的理解也有了显著提高。发作性睡病的两个主要症状——嗜睡和猝倒背后的基本神经机制开始变得更加清晰。在这篇综述中,我们详细阐述了发作性睡病的病因发病机制和神经生物学的关键方面,并对最近出现的有趣的因果关联进行了批判性评价。我们还探讨了神经影像学对发作性睡病病因发病机制的贡献。