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Diagnosis of central disorders of hypersomnolence: A reappraisal by European experts.中枢性嗜睡障碍的诊断：欧洲专家的再评估。
Sleep Med Rev. 2020 Aug;52:101306. doi: 10.1016/j.smrv.2020.101306. Epub 2020 Mar 23.
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HLA and sleep parameter associations in post-H1N1 narcolepsy type 1 patients and first-degree relatives.H1N1 后发作的 1 型发作性睡病患者及其一级亲属的 HLA 与睡眠参数的相关性。
Sleep. 2020 Mar 12;43(3). doi: 10.1093/sleep/zsz239.
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Posttraumatic Stress Disorder and Incident Infections: A Nationwide Cohort Study.创伤后应激障碍与感染性疾病：一项全国性队列研究。
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Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes.基于自我报告的日间嗜睡的全基因组关联分析确定了 42 个位点，提示存在生物学亚型。
Nat Commun. 2019 Aug 13;10(1):3503. doi: 10.1038/s41467-019-11456-7.
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Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment.发作性睡病-临床谱、病因病理生理学、诊断和治疗。
Nat Rev Neurol. 2019 Sep;15(9):519-539. doi: 10.1038/s41582-019-0226-9. Epub 2019 Jul 19.
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Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.跨疾病分析精神分裂症和 19 种免疫介导性疾病，确定共享的遗传风险。
Hum Mol Genet. 2019 Oct 15;28(20):3498-3513. doi: 10.1093/hmg/ddz145.
7
Response to "H1N1 hemagglutinin-specific HLA-DQ6-restricted CD4+ T cells can be readily detected in narcolepsy type 1 patients and healthy controls".对“1型发作性睡病患者和健康对照中可轻易检测到H1N1血凝素特异性HLA - DQ6限制性CD4 + T细胞”的回应
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Psychophysiological insomnia and respiratory tract infections: results of an infection-diary-based cohort study.精神生理性失眠与呼吸道感染：基于感染日记的队列研究结果。
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10
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发作性睡病 1 型：遗传学研究进展

Narcolepsy type 1: what have we learned from genetics?

机构信息

Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.

出版信息

Sleep. 2020 Nov 12;43(11). doi: 10.1093/sleep/zsaa099.

DOI:10.1093/sleep/zsaa099
PMID:32442260
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7658635/
Abstract

Type-1 narcolepsy is a severe neurological disorder with distinct characteristic of loss of hypocretin neurotransmitter. Genetic analysis in type-1 narcolepsy have revealed a unique signal pointing toward autoimmune, rather than psychiatric origin. While type-1 narcolepsy has been intensively studied, the other subtypes of hypersomnolence, narcolepsy, and hypersomnia are less thoroughly understood. This review summarizes the latest breakthroughs in the field in narcolepsy. The goal of this article is to help the reader to understand better the risk from genetic factors and their interplay with immune, genetic, and epidemiological aspects in narcolepsy.

摘要

1 型发作性睡病是一种严重的神经疾病，其特征是下丘脑分泌素神经递质缺失。1 型发作性睡病的遗传分析显示出一种独特的信号，指向自身免疫，而不是精神起源。虽然 1 型发作性睡病已得到深入研究，但其他类型的过度嗜睡、发作性睡病和嗜睡症的了解还不够透彻。本文综述了发作性睡病领域的最新突破。本文的目的是帮助读者更好地理解遗传因素的风险及其与发作性睡病的免疫、遗传和流行病学方面的相互作用。