发作性睡病 narcolepsy - PubMed 文献
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关于 发作性睡病
发作性睡病（narcolepsy）是一种以日间过度嗜睡（excessive daytime sleepiness）为核心表现的中枢性睡眠-觉醒调节障碍，属于睡眠医学与神经病学交叉领域。其典型特征包括不可抑制的睡眠发作、猝倒（cataplexy）、睡眠瘫痪（sleep paralysis）、入睡前幻觉（hypnagogic hallucinations）及夜间睡眠碎片化。根据临床表型可分为伴猝倒型发作性睡病（narcolepsy type 1）与不伴猝倒型发作性睡病（narcolepsy type 2），前者与下丘脑分泌素（hypocretin/orexin）神经元丢失密切相关。中文又称“发作性睡病”，近义词包括“嗜睡症”“睡眠发作”“Gelineau综合征”等，英文同义词有 narcoleptic syndrome、hypocretin deficiency syndrome 等。
该领域的研究热点涵盖下丘脑分泌素系统与自身免疫机制、遗传易感性（如 HLA-DQB1*06:02）、神经影像与脑脊液生物标志物、猝倒的神经环路机制，以及新型促醒药物与免疫调节治疗。经典议题包括睡眠-觉醒状态转换调控、快速眼动睡眠（REM sleep）异常、儿童与成人临床表现差异及共病（如肥胖、抑郁）。代表性期刊有 Sleep、Journal of Clinical Sleep Medicine、Neurology、Brain 等，国际上有 Emmanuel Mignot、Thomas Scammell 等学者在该方向有持续贡献。
PubMed增强版为发作性睡病研究者与临床医生提供多项实用功能：可对英文摘要进行中文翻译，降低非英语母语者的阅读门槛；展示期刊影响因子与分区信息，辅助判断文献学术权重；支持全文PDF下载链接，便于获取原始研究；内置AI阅读工具可快速提炼文献要点、归纳研究设计与结论，帮助用户在大量文献中高效筛选与发作性睡病相关的诊断、治疗及机制研究。
发作性睡病 的 PubMed 搜索结果
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1. First Episode Psychosis in a Teen with Narcolepsy and Cataplexy.
1. 患有嗜睡症和猝倒症的青少年的首发精神病PMID:期刊:Psychopharmacology bulletin PubMedDOI:日期:2025-01-01[中文摘要] 伴猝倒发作的发作性睡病（NT1）是一种与早发性精神病相关性极为罕见的睡眠障碍。这种共病的发生率尚不明确，但似乎在儿童和青少年中更为常见。这种诊断组合给诊断和治疗带来了挑战。本病例报告讨论了一名青少年女性，她患有首发精神病，同时正在接受NT1的治疗，既往无精神病史。在排除其他可能的医学病因后，她被初步诊断为短暂精神病性发作，并接受利培酮治疗，同时继续使用莫达非尼和文拉法辛治疗NT1。在对利培酮部分应答后，她的精神病症状经氯丙嗪治疗后改善，这是首批记录在案的成功使用该药物治疗伴NT1的首发精神病的病例之一。
[英文摘要] Narcolepsy with cataplexy (NT1) is a sleep disorder very rarely associated with early-onset psychosis. The incidence of this association is unknown but appears to be more common in children and adolescents. This combination of diagnoses presents a diagnostic and therapeutic challenge. This case report discusses an adolescent female with first-episode psychosis who was being treated for NT1 and had no prior psychiatric history. After ruling out other possible medical causes, she was given an initial diagnosis of a brief psychotic episode and treated with Risperidone while continuing treatment for NT1 with Modafinil and Venlafaxine. Following partial response to Risperidone, her psychosis improved with Chlorpromazine, one of the first documented cases of successful use of this medication for first-episode psychosis with NT1.
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2. Pandemrix™ and narcolepsy: A critical appraisal of the observational studies.
2. Pandemrix™与发作性睡病：观察性研究的批判性评估PMID:日期:2015-09-17[中文摘要] 2010年，瑞典和芬兰在收到多份儿童和青少年报告后，首次怀疑Pandemrix™（AS03佐剂H1N1大流行流感疫苗，葛兰素史克疫苗，比利时）与发作性睡病之间存在关联。随着更多国家报告了类似发现，最初对所述关联的怀疑逐渐消退，促使多个监管机构限制Pandemrix™的使用。作者承认，目前可获得的数据提示接种Pandemrix™后发作性睡病风险增加；然而，从流行病学家的角度来看，这些研究的重要方法学局限性尚未得到充分处理，并对所报告的风险估计提出了疑问。我们综述了12项欧洲研究中可能出现的、关于Pandemrix™与发作性睡病之间观察到的关联的最重要偏倚和混杂因素，并呼吁进一步分析和讨论。
[英文摘要] A link between Pandemrix™ (AS03-adjuvanted H1N1 pandemic influenza vaccine, GSK Vaccines, Belgium) and narcolepsy was first suspected in 2010 in Sweden and Finland following a number of reports in children and adolescents. Initial scepticism about the reported association faded as additional countries reported similar findings, leading several regulatory authorities to restrict the use of Pandemrix™. The authors acknowledge that currently available data suggest an increased risk of narcolepsy following vaccination with Pandemrix™; however, from an epidemiologist's perspective, significant methodological limitations of the studies have not been fully addressed and raise questions about the reported risk estimates. We review the most important biases and confounders that potentially occurred in 12 European studies of the observed association between Pandemrix™ and narcolepsy, and call for further analyses and debate.
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3. The role of hypocretins (orexins) in sleep regulation and narcolepsy.
3. 下丘脑分泌素（食欲素）在睡眠调节和发作性睡病中的作用PMID:日期:2002-03-20[中文摘要] 下丘脑分泌素（食欲素）是两种新型神经肽（Hcrt-1和Hcrt-2），来源于同一前体基因，由仅定位于下丘脑外侧区、后区和穹窿周区的神经元合成。含下丘脑分泌素的神经元在中枢神经系统中具有广泛的投射，尤其对单胺能中枢有密集的兴奋性投射，如去甲肾上腺素能蓝斑、组胺能结节乳头体核、5-羟色胺能中缝核以及多巴胺能腹侧被盖区。下丘脑分泌素最初被认为主要在食欲调节中发挥重要作用；然而，对这些神经肽的研究揭示出其一项重要功能是调节睡眠与觉醒。下丘脑分泌素神经传递缺陷可导致小鼠、犬和人类发生发作性睡病。下丘脑分泌素还具有独特的地位，能够将睡眠、食欲和神经内分泌调控联系起来。本综述旨在描述和讨论目前关于下丘脑分泌素神经递质系统在发作性睡病和正常睡眠中的认识。
[英文摘要] The hypocretins (orexins) are two novel neuropeptides (Hcrt-1 and Hcrt-2), derived from the same precursor gene, that are synthesized by neurons located exclusively in the lateral, posterior, and perifornical hypothalamus. Hypocretin-containing neurons have widespread projections throughout the CNS with particularly dense excitatory projections to monoaminergic centers such as the noradrenergic locus coeruleus, histaminergic tuberomammillary nucleus, serotoninergic raphe nucleus, and dopaminergic ventral tegmental area. The hypocretins were originally believed to be primarily important in the regulation of appetite; however, a major function emerging from research on these neuropeptides is the regulation of sleep and wakefulness. Deficiency in hypocretin neurotransmission results in the sleep disorder narcolepsy in mice, dogs, and humans. The hypocretins are also uniquely positioned to link sleep, appetite, and neuroendocrine control. The aim of this review is to describe and discuss the current knowledge regarding the hypocretin neurotransmitter system in narcolepsy and normal sleep.
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4. YouTube as a source of information for narcolepsy: A content-quality and optimization analysis.
4. YouTube作为发作性睡病信息来源：内容质量与优化分析PMID:日期:2020-04-21[中文摘要] YouTube是全球最受欢迎的视频分享网站，近年来已成为患者寻找疾病教育信息的重要平台。本研究旨在评估YouTube上与发作性睡病相关视频的质量和可靠性。我们在YouTube上检索了关键词“Narcolepsy”、“Narcolepsy-cataplexy”、“Narcolepsy excessive daytime sleepiness”和“Narcolepsy excessive drowsiness”。共有80个符合纳入标准的视频被纳入分析。由两名独立评估者记录定量和定性指标，并使用DISCERN工具对视频进行评分。我们的研究结果显示，大多数视频包含清晰的信息（84%）、症状（78%）和患者体验（69%）。大多数视频由不代表医院或诊所的教育频道发布（41%），或由患有该疾病的患者发布（25%）。包含动画的视频在日均观看量（p = .0004）和视频影响力指数（p = .0048）之间具有统计学显著相关性，提示该特征提高了视频在观众中的受欢迎程度。DISCERN平均得分为27 ± 8，表明发作性睡病相关视频的质量较差。因此，目前将YouTube作为教育工具的患者无法全面了解该疾病。为此，我们列出了医生可以推荐给患者的排名前5位的视频。本文凸显了YouTube上关于发作性睡病信息的知识空白。因此，这些信息可用于在未来创建更好的教育内容。
[英文摘要] YouTube is the world's most popular video-sharing site that in recent years has become an important platform for patients in finding educational information about their disease. The purpose of this study was to assess the quality and reliability of narcolepsy-related YouTube videos. We searched the key terms "Narcolepsy", "Narcolepsy-cataplexy," "Narcolepsy excessive daytime sleepiness" and "Narcolepsy excessive drowsiness" on YouTube. 80 videos were analyzed as they meet the inclusion criteria. Quantitative and qualitative metrics were recorded and the videos were scored using the DISCERN instrument by two independent raters. Our findings show that the majority of videos contained clear information (84%), symptoms (78%) and patient experience (69%). Most videos were published by an educational channel not representing a hospital or clinic (41%) or by a patient suffering from the disease (25%). Videos containing animations had a statistically significant correlation between average daily views (p = .0004) and the video power index (p = .0048), suggesting that this feature increased the popularity among viewers. The mean DISCERN score was 27 ± 8, indicating that the quality of narcolepsy related-videos is poor. Therefore, patients that use YouTube as an educational tool are currently not attaining a comprehensive understanding of the disease. For this reason, we have indicated the top 5 videos that physicians can recommend to their patients. Our paper highlights the gaps of knowledge concerning narcolepsy information on YouTube. Therefore, this information can be used to create better educational content in the future.
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5. Narcolepsy in Southern Chinese patients: clinical characteristics, HLA typing and seasonality of birth.
5. 中国南方发作性睡病患者：临床特征、HLA分型及出生季节性PMID:日期:2008-04-03[中文摘要] 报告54例中国南方发作性睡病患者的临床特征、人类白细胞抗原（HLA）分型及出生季节性。所有受试者均接受了详细的医学和精神科访谈，以及标准化夜间多导睡眠图检查，随后进行日间多次睡眠潜伏期试验。每位受试者还完成了一套睡眠问卷。91%的受试者进行了HLA分型。共有78%和22%的患者分别被诊断为伴猝倒型发作性睡病和不伴猝倒型发作性睡病。大多数患者（n=47，87%）因日间过度嗜睡（EDS）被转诊至本睡眠门诊。伴猝倒型发作性睡病与不伴猝倒型发作性睡病的区别在于：前者具有更多快速眼动（REM）相关的临床症状（更多的睡眠瘫痪和睡眠相关幻觉）和睡眠障碍（REM潜伏期更短），以及与HLA DQB1*0602更紧密的关联。发病年龄呈现11岁和39岁的双峰模式。EDS和猝倒也呈现类似的双峰模式。本组患者中观察到冬季出生过多现象。81%的伴猝倒型发作性睡病患者为DQB1*0602阳性。早发型与晚发型病例在DQB1*0602阳性关联方面无差异（71.4%对60%）。发作性睡病对患者的社交、学业、家庭及心理等多个方面均产生了显著的负面影响。在本组中国南方发作性睡病系列中，发现了发病年龄的双峰模式、冬季出生过多现象，以及HLA DQB1*0602与伴猝倒型发作性睡病的紧密关联。
[英文摘要] To report clinical characteristics, human leukocyte antigen (HLA) typing and seasonality of birth of a series of 54 Southern Chinese patients suffering from narcolepsy. All subjects underwent detailed medical and psychiatric interviews and a standardised nocturnal polysomnogram followed by a daytime Multiple Sleep Latency Test. Each subject also completed a set of sleep questionnaires. HLA typing was performed in 91% of subjects. A total of 78% and 22% of patients were diagnosed with suffering from cataplectic and non-cataplectic narcolepsy, respectively. The majority (n = 47, 87%) of patients were referred to our sleep clinic for excessive daytime sleepiness (EDS). The cataplectic narcolepsy differed from non-cataplectic narcolepsy by having more rapid eye movement (REM)-related clinical symptoms (more sleep paralysis and sleep-related hallucination) and sleep disturbances (shorter REM latency), as well as tighter association with HLA DQB1*0602. A bi-modal peak pattern was observed at 11 and 39 years old. A similar bi-modal pattern also occurred for EDS and cataplexy. Excess winter births were observed for this series of patients. 81% of patients with cataplectic narcolepsy were DQB1*0602-positive. There were no differences between early- and late-onset cases in the association with positive DQB1*0602 (71.4% vs 60%). Narcolepsy had prominent pernicious effects on various social, academic, family and mental aspects in our patients. In our Southern Chinese narcolepsy series, bi-modal peak pattern of age of onset, excess winter birth and tight association of HLA DQB1*0602 with cataplectic narcolepsy were found.
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6. Hypocretin levels in sporadic and familial cases of canine narcolepsy.
6. 散发性与家族性犬发作性睡病中的下丘脑分泌素水平PMID:日期:2001-06[中文摘要] 家族性和散发性发作性睡病在人类和犬类中均存在。下丘脑分泌素受体2基因（Hcrtr 2）突变可导致犬家族性发作性睡病。在人类中，下丘脑分泌素相关基因突变较为罕见，但大多数散发病例的脑脊液（CSF）中下丘脑分泌素-1检测不到。利用犬模型，我们研究了：（1）下丘脑分泌素缺乏是否参与散发病例；（2）下丘脑分泌素神经元或配体水平的改变是否也参与Hcrtr 2突变体的表型。我们发现，在所检测的三只散发性发作性睡病犬中，三只脑内均检测不到下丘脑分泌素，两只的脑脊液中均检测不到下丘脑分泌素。相比之下，遗传性发作性睡病杜宾犬的脑和脑脊液中下丘脑分泌素水平未见改变，含下丘脑分泌素的神经元形态正常。因此，犬发作性睡病可能涉及多种与下丘脑分泌素相关的病因。Hcrtr 2突变动物中下丘脑分泌素肽的存在提示，经Hcrtr 1的神经传递可能完好，这支持Hcrtr 2介导的功能在发作性睡病中具有优先重要性。
[英文摘要] Familial and sporadic forms of narcolepsy exist in both humans and canines. Mutations in the hypocretin receptor 2 gene (Hcrtr 2) cause canine familial narcolepsy. In humans, mutations in hypocretin-related genes are rare, but cerebrospinal fluid (CSF) hypocretin-1 is undetectable in most sporadic cases. Using the canine model, we investigated ( 1 ) whether hypocretin deficiency is involved in sporadic cases and ( 2 ) whether alterations in hypocretin neurons or ligand levels also contribute to the phenotype in Hcrtr 2 mutants. We found that hypocretins were undetectable in the brains of three of three and the CSF of two of two sporadic narcoleptic dogs tested. In contrast, hypocretin levels were not altered in brains and CSF of genetically narcoleptic Dobermans, and hypocretin-containing neurons were of normal appearance. Therefore, multiple hypocretin-related etiologies are likely to be involved in canine narcolepsy. The presence of hypocretin peptides in Hcrtr 2-mutated animals suggests that neurotransmission through Hcrtr 1 may be intact, arguing for a preferential importance of Hcrtr 2-mediated function in narcolepsy.
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7. Narcolepsy: Pathophysiology, Diagnosis, Management, and Future Directions, a Narrative Review.
7. 发作性睡病：病理生理学、诊断、管理与未来方向——叙述性综述PMID:日期:2025-12[中文摘要] 批判性地综合当前对发作性睡病病理生理学、诊断挑战及治疗格局的认识，并阐明从对症管理向疾病修饰转变的新兴范式。本叙述性综述基于对PubMed和Google Scholar中2015年至2025年间发表文献的策略性检索，聚焦于疾病机制、诊断以及已确立和新兴的治疗干预措施。发作性睡病是一种神经系统疾病，其根本驱动因素是产生下丘脑分泌素（hypocretin）的神经元不可逆性丢失，这一过程与携带HLA-DQB1*0602等位基因个体的自身免疫反应密切相关。尽管病理生理学已较为明确，但由于医生认知有限以及症状与多种精神科和代谢性共病重叠，诊断常延迟近十年。当前的药物治疗策略虽能部分缓解日间过度嗜睡和猝倒，但纯属对症治疗，未能解决核心的下丘脑分泌素缺乏。该领域现正处于关键转折点，针对下丘脑分泌素受体激动剂、靶向免疫治疗和神经调控技术的前景广阔的研究有望直接针对潜在病理机制。现有的发作性睡病治疗方法属姑息性而非恢复性，在能够改变疾病自然史的干预措施方面存在显著未满足的需求。发作性睡病管理的未来取决于将新的病理生理学见解转化为疾病修饰疗法。实现这一目标需要协同努力以加速诊断、验证新的临床终点，并优先开发能够恢复神经功能的干预措施。这种方法有望超越症状抑制，从根本上改善发作性睡病患者的生活。
[英文摘要] To critically synthesize the current understanding of narcolepsy's pathophysiology, diagnostic challenges, and treatment landscape, and to articulate the emerging paradigm shift from symptomatic management toward disease modification. This narrative review is based on a strategic search of literature from PubMed and Google Scholar published between 2015 and 2025, focusing on disease mechanisms, diagnosis, and established and emerging therapeutic interventions. Narcolepsy is a neurological disorder fundamentally driven by an irreversible loss of hypocretin-producing neurons, a process strongly linked to an autoimmune response in individuals with the HLA-DQB1*0602 allele. Despite this well-defined pathophysiology, diagnosis is often delayed by nearly a decade due to limited physician awareness and symptom overlap with a wide range of psychiatric and metabolic comorbidities. Current pharmacological strategies, while providing partial relief from excessive daytime sleepiness and cataplexy, are purely symptomatic and fail to address the core hypocretin deficiency. The field is now at a critical inflection point, with promising research into hypocretin receptor agonists, targeted immunotherapies, and neuromodulation techniques poised to directly address the underlying pathology. The existing therapeutic approach to narcolepsy is palliative, not restorative, leaving a significant unmet need for interventions that can alter the disease's natural history. The future of narcolepsy management depends on translating novel pathophysiological insights into disease-modifying therapies. Achieving this requires a concerted effort to accelerate diagnosis, validate new clinical endpoints, and prioritize the development of interventions capable of restoring neurological function. Such an approach holds the potential to move beyond symptom suppression and fundamentally improve the lives of individuals with narcolepsy.
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8. Cerebellar Ataxia-deafness-narcolepsy (ADCA) syndrome. Description of a variable family phenotype.
8. 小脑共济失调性耳聋发作性睡病（ADCA）综合征。可变家族表型的描述PMID:日期:2025-04-26[中文摘要] 小脑性共济失调-耳聋-发作性睡病综合征（ADCA-DN）是常染色体显性遗传共济失调1型（ADCA 1型）中一种极为罕见的多表型亚型。该病起病于成年期，还可伴有其他多种可变症状，如视神经萎缩、白内障、精神病、抑郁或感觉性神经病。我们报道一个从第一代即被诊断的家系，对其表型进行描述并进行遗传学研究。我们描述了一个ADCA综合征家系中的三名成员。患者II-2于51岁起病，表现为共济失调、震颤、癫痫发作、小脑萎缩、不伴猝倒的发作性睡病、听力下降及中度认知障碍。患者III-1于42岁起病，表现为伴猝倒的发作性睡病、听力下降和震颤；患者IV-1于4岁起病，表现为轻度智力障碍及不伴猝倒的发作性睡病。基因检测显示DNMT1基因存在突变：DNMT1基因变异c.1709 C > T；p.Ala570Val。ADCA综合征在同一家系中具有可变表型。根据我们的经验，该型共济失调在所有三例中均以发作性睡病为首发症状，并伴有震颤和认知障碍。共济失调虽为核心症状，但在较年轻患者中并不出现于起病时，听力下降似乎也随年龄逐渐发展。所研究的病例中均未出现感觉性神经病。
[英文摘要] Cerebellar ataxia-deafness-narcolepsy syndrome (ADCA-DN) is a very rare polymorphic subtype of autosomal dominant ataxia type 1 (ADCA type 1). It begins in adulthood, and may also be associated with other variable symptoms as optic atrophy, cataracts, psychosis, depression or sensory neuropathy. We present a family diagnosed from the first generation, its phenotypic description and genetic study. We describe three members of a family with ADCA sydrome. Patient II-2 started at 51 years, with ataxia, tremor, epileptic seizures, cerebellar atrophy, narcolepsy without cataplexy, hearing loss, moderate cognitive impairment. Patient III-1 started at 42 years with narcolepsy with cataplexy, hearing loss and tremor, and patient IV-1 started at 4 years, with mild intellectual disability, and narcolepsy without cataplexy. Genetic test showed a mutation in DNMT1 gene: variant c.1709 C > T; p.Ala570Val in the DNMT1 gene. ADCA syndrome has a variable phenotype in a same family. In our experience, this type of ataxia develops narcolepsy as the first sympton in all three cases, with tremor and cognitive impairment, together with tremor and cognitive impairment. Ataxia, despite being a cardinal symptom, does not appear at the onset in younger patients, and hearing loss also seems to develop over the years. Sensory neuropathy is not present in any of the cases studied.
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9. The occurrence of HLA-DR2 in clinically established narcolepsy.
9. 临床确诊发作性睡病中HLA-DR2的出现PMID:日期:1987-06[中文摘要] 在25例长期诊断为发作性睡病的患者中，23例为HLA-DR2阳性。经回顾性访谈，2例DR2阴性患者系误诊。HLA-DR2测定是确诊不确定病例中发作性睡病的 valuable 工具。
[英文摘要] Of 25 patients with a longstanding diagnosis of narcolepsy 23 were HLA-DR2 positive. The 2 DR2 negative patients were misdiagnosed when retrospectively interviewed. HLA-DR2 determination is a valuable tool for ascertaining the narcolepsy diagnosis in uncertain cases.
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10. Factors associated with a delay in the diagnosis of narcolepsy.
10. 与发作性睡病诊断延迟相关的因素PMID:日期:2004-01[中文摘要] 从症状出现到确诊发作性睡病之间可能存在很长的时间间隔。文献中尚无关于可能导致这种延迟的因素的多变量分析报道。本研究旨在描述英国发作性睡病患者的诊断延迟情况，并识别相关因素。该研究对英国发作性睡病协会的500名成员进行了邮寄问卷调查，问卷内容包括症状发病年龄、确诊年份及受试者人口学资料。采用Cox比例风险回归进行分析。共回收313份问卷，其中219份填写完整足以进行分析。从症状出现到确诊的时间间隔为1年以内至61年不等，中位数为10.5年。多变量分析显示，猝倒作为首发症状之一以及症状发病年份较近是仅有的与确诊时间相关的因素。我们证实，发作性睡病的诊断可延迟多年，尤其是在初期无猝倒的情况下。英国的诊断延迟似乎正在缩短，可能是由于医生和患者对发作性睡病临床表现的认识有所提高。
[英文摘要] There can be a long interval from the onset of symptoms before a diagnosis of narcolepsy is made. There are no multivariate analyses reported in the literature of factors that may contribute to this delay. The aims of this study were to describe the delay in diagnosis of people with narcolepsy living in the UK and to identify associated factors. The study comprised a postal survey of 500 members of the Narcolepsy Association UK, which included questions regarding age of onset of symptoms, year of diagnosis and subject demographics. Cox's proportional hazards regression was performed. A total of 313 questionnaires were returned of which 219 had been completed sufficiently for analysis. The interval between symptom onset and diagnosis ranged from within 1 to 61 years with a median of 10.5 years. Multivariate analysis showed that the presence of cataplexy as one of the initial symptoms and a more recent year of symptom onset were the only factors associated with time to diagnosis. We have confirmed that the diagnosis of narcolepsy can be delayed for many years particularly when cataplexy is absent initially. The delay in diagnosis in the UK appears to be decreasing, probably through greater doctor and patient awareness of the clinical manifestations of narcolepsy.