eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | narcolepsy |
| Symptom | C0007384|cataplexy |
| Sentences | 170 |
| PubMedID- 24142146 | The pathogenesis of sporadic narcolepsy with cataplexy is likely autoimmune with hypocretin neurons being a target (kornum et al., 2011a), and possibly interacting with other neurotransmission systems during development (sundvik et al., 2011). |
| PubMedID- 22259780 | The patients were categorized according to the international classification of sleep disorders (icsd)-2 into 2 groups: (1) narcolepsy with cataplexy and (2) narcolepsy without cataplexy but with a mean sleep latency of less than or equal to 8 min and the presence of 2 or more sleep-onset rem periods (soremps) during the mslt. |
| PubMedID- 21931493 | It is thought that narcolepsy with cataplexy is secondary to loss of hypothalamic hypocretin neurons in those genetically predisposed to the disorder by possession of human leukocyte antigen dqb1*0602. the diagnostic criteria for narcolepsy are based on symptoms, laboratory sleep tests, and serum levels of hypocretin. |
| PubMedID- 20337187 | Study objectives: narcolepsy with cataplexy is caused by a loss of orexin (hypocretin) signaling, but the physiologic mechanisms that result in poor maintenance of wakefulness and fragmented sleep remain unknown. |
| PubMedID- 23622291 | It can be secondary to brain tumors or several rare diseases, but in most cases narcolepsy with or without cataplexy is a primary condition, better explained by the selective loss of hypocretin neurons in posterolateral hypothalamus. |
| PubMedID- 25325489 | Study objectives: we investigated the diagnostic accuracy of a nocturnal sleep onset rapid eye movement sleep period (nsoremp) for the identification of narcolepsy with cataplexy (n+c) among children and adolescents referred to the sleep laboratory for an overnight polysomnography (psg) and multiple sleep latency test (mslt). |
| PubMedID- 21930661 | The mean ± sd age of symptom onset was 9.3 ± 3.0 years; yearly narcolepsy with cataplexy onset ranged from one to three during the period from 1998 to 2006, from six to nine in the period from 2007 to 2009 and a single patient in 2010. diagnostic delay was 1.8 ± 2.1 years (range 3 weeks–9 years). |
| PubMedID- 23288981 | Study objectives: although hypothesized through animal studies, a temporal and causal association between hypocretin deficiency and the onset of narcolepsy with cataplexy (nc) has never been proven in humans. |
| PubMedID- 26313387 | narcolepsy with cataplexy and parkinson's disease. |
| PubMedID- 19732319 | In this population-based case-control study, we sought to identify all prevalent cases of narcolepsy with cataplexy aged 18-50 years as of 1 july 2001, in king county, washington. |
| PubMedID- 23946711 | Results: a total of 100 consecutive narcolepsy patients (87 with cataplexy nc, 13 without cataplexy n) were included in the analysis. |
| PubMedID- 24312261 | These findings suggest that symptomatic differences between narcolepsy with and without cataplexy are related to either the severity and localizations of hypocretin neurons loss or a different pathway. |
| PubMedID- 24780136 | The international classification of sleep disorders, second edition (icsd-2) criteria, were used to classify sleep disorders (e.g., delayed sleep phase disorder, hypersomnia, narcolepsy with cataplexy nc, restless legs syndrome rls, periodic limb movement disorder plmd, insomnia, rapid eye movement sleep behavior disorder rbd, and obstructive sleep apnea osa). |
| PubMedID- 22406785 | Mean age at onset of symptoms was 25+/-10 years; 12 (60%) patients had narcolepsy with cataplexy, 4 (20%) patients presented with all cardinal symptoms of narcolepsy, 8 (40%) with 3 symptoms, while 8 (40%) presented with 2 symptoms. |
| PubMedID- 23219054 | narcolepsy without cataplexy is a condition rarely associated with hypocretin deficiency. |
| PubMedID- 21677900 | However, subjects in the narcolepsy with cataplexy group had significantly higher scores on the eysenck impulsiveness scale (p < 0.05), with 10.0% categorized as impulsive, compared to 6.7% of the narcolepsy without cataplexy group and none of the controls. |
| PubMedID- 23228163 | Our results demonstrate that narcolepsy with cataplexy accurately perceives and discriminates facial emotions, and regulates emotions normally. |
| PubMedID- 25098533 | Objective: conflicting data have been reported on resting autonomic tone in narcolepsy with cataplexy (nc), including reduced or increased sympathetic activity; to settle this important point, we aimed to measure the resting sympathetic and cardiovascular activities in patients with nc by direct microneurographic monitoring of muscle sympathetic nerve activity (msna) during wakefulness. |
| PubMedID- 19955018 | Methods: seven narcolepsy with cataplexy patients underwent daytime videopolygraphy using humorous movies or/and jokes to trigger cataplectic attacks. |
| PubMedID- 25707395 | Finally, our classifiers could be used to identify the risk haplotypes for japanese narcolepsy with cataplexy, hla-drb1*15:01 and hla-dqb1*06:02, with 100% and 99.7% accuracy, respectively; therefore, these classifiers can be used to supplement the current lack of hla genotyping data in widely available genome-wide association study data sets. |
| PubMedID- 24169281 | Methods: a total of 139 narcoleptic patients, including 111 narcolepsy with typical cataplexy (nc) and 28 narcolepsy without cataplexy (nwc), were diagnosed at the sleep centre of peking university people's hospital from april 2003 to march 2012. |
| PubMedID- 21484510 | Purpose: this study aims to report on catathrenia occurring in narcolepsy with cataplexy (nc) patients under sodium oxybate (so) treatment. |
| PubMedID- 24727570 | Remarkably, narcolepsy with or without cataplexy with low/intermediate or normal cerebrospinal fluid hypocretin-1 is present in both diseases. |
| PubMedID- 23853567 | Status cataplecticus is a rare manifestation of narcolepsy with cataplexy episodes recurring for hours or days, without a refractory period, in the absence of emotional triggers. |
| PubMedID- 24694762 | In humans, narcolepsy with cataplexy (narcolepsy) is a sleep disorder that is characterized by sleepiness, cataplexy and rapid eye movement (rem) sleep abnormalities. |
| PubMedID- 23950869 | narcolepsy with cataplexy is characterised by an excessive daytime sleepiness, cataplexy and disturbed nocturnal sleep. |
| PubMedID- 23734110 | Major advances in the past decade have led a better understanding of the pathophysiology of narcolepsy with cataplexy (nc) caused by the early loss of hypothalamic hypocretin neurons. |
| PubMedID- 22468916 | Models for narcolepsy with cataplexy drug discovery. |
| PubMedID- 20854137 | narcolepsy with cataplexy (nc) is a sleep disorder caused by the loss of the hypothalamic neurons producing hypocretin. |
| PubMedID- 26518595 | Design: hla class i (a, b, and c) and ii (dqb1) genotypes were analyzed in 944 european narcolepsy with cataplexy patients and in 4043 control subjects matched by country of origin. |
| PubMedID- 22783726 | The objective of this study was to perform global gene expression profiling of patients affected by narcolepsy with cataplexy (nrlcp). |
| PubMedID- 25784528 | The cerebrospinal fluid level of orexin/hypocretin was low (92 ng/l), leading to a diagnosis of narcolepsy with cataplexy according to the international classification of sleep disorders (icsd)-2 criteria. |
| PubMedID- 22167152 | Objective: based on the clinical observation that patients suffering from narcolepsy with cataplexy (nc) have cataplectic attacks when they experience positive emotions, it is therefore hypothesised that the abnormal processing of external emotional input through the limbic system, or motor dysregulation induced by emotions, takes place during these episodes. |
| PubMedID- 25165990 | Hypocretin deficiency appears to underlie narcolepsy with cataplexy, and infections and vaccinations have been associated with disease onset. |
| PubMedID- 21148631 | Patients or participants: eight male hypocretin-deficient narcolepsy with cataplexy patients and eight controls matched for sex, age, body mass index, waist-to-hip ratio and fat percentage were enrolled. |
| PubMedID- 22768053 | The latter choice may be considered as particularly difficult as narcolepsy with cataplexy is an orphan disease associated with several comorbid conditions such as obesity. |
| PubMedID- 25576137 | narcolepsy with and without cataplexy, idiopathic hypersomnia with and without long sleep time: a cluster analysis. |
| PubMedID- 22547897 | We retrospectively evaluated 27 children ranging from 6 to 16 years old, suffering from narcolepsy with cataplexy, who had been treated with off-label sodium oxybate and had been followed in a clinical setting. |
| PubMedID- 21173745 | Background: narcolepsy with cataplexy (nc) differs from narcolepsy without cataplexy (nwoc) in the cerebrospinal fluid levels of hypocretin. |
| PubMedID- 22467990 | Study objective: narcolepsy with cataplexy (nc) is associated with loss of hypocretin neurons in the lateral hypothalamus involved in the circadian timing of sleep and wakefulness, and many biologic functions including autonomic control. |
| PubMedID- 21347440 | The hypocretin/orexin (hcrt/orx) neurons of the hypothalamus play an important role in maintaining arousal, since their absence results in narcolepsy with cataplexy (for reviews, see ). |
| PubMedID- 21723190 | Objectives: to compare differences in nocturnal and daytime polysomnographic findings between narcolepsy (na) with and without cataplexy (ca) and idiopathic hypersomnia without long sleep time (ihs w/o lst). |
| PubMedID- 20967199 | In humans, narcolepsy with cataplexy (nc) is characterised by selective loss of hypocretin neurons in the brain with low levels of hypocretin in the cerebro-spinal fluid (csf) , 7. |
| PubMedID- 21463040 | Objective: narcolepsy with cataplexy (nc) affects neurotransmitter systems regulating emotions and cognitive functions. |
| PubMedID- 20129934 | We hypothesized that rapid eye movement sleep behaviour disorder coexists with cataplexy in narcolepsy due to hypocretin deficiency. |
| PubMedID- 26074743 | However, because there are also legitimate medical uses for ghb, such for cataplexy attacks in patients with narcolepsy, in the form of sodium oxybate ghb was placed in schedule iii as xyrem®. |
| PubMedID- 24368893 | In humans, orexin deficiency leads to narcolepsy with cataplexy (nishino et al., 2000). |
| PubMedID- 25264897 | Main outcome measures: confirmed narcolepsy with or without cataplexy with onset of excessive daytime sleepiness between january 1st, 2009, and december 31st, 2010. |
| PubMedID- 26483903 | narcolepsy with cataplexy after a/h1n1 vaccination - a case reported from cuba. |
| PubMedID- 23689193 | Background: disturbed sleep is a core feature of narcolepsy with cataplexy (nc). |