• Title/Summary/Keyword: Narcolepsy

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Expression of Human Leukocyte Antigen DQB1*0602 in Korean Patients with Narcolepsy (한국인 기면병 환자의 Human Leukocyte Antigen(HLA) DQB1*0602 발현 빈도)

  • Hong, Seung-Chul;Woo, Young-Sub;Park, Soo-A;Jeong, Jong-Hyun;Han, Jin-Hee;Kim, Leen;Lee, Sung-Pil
    • Sleep Medicine and Psychophysiology
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    • v.8 no.2
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    • pp.107-112
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    • 2001
  • Introduction: Narcolepsy, a sleep disorder characterized by excessive daytime sleepiness and cataplexy, is known to be closely associated with the human leukocyte antigen (HLA) DQB1*0602. Several studies have suggested that HLA-DQB1*0602 is strongly linked with narcolepsy-cataplexy. However, no studies have yet been made on whether HLA DQB1*0602 is associated with Korean patients with narcolepsy. This study was designed to investigate the frequency of HLA-DQB1*0602 of Korean patients with narcolepsy. Methods: Twenty patients were selected (mean age: $28.2{\pm}3.0$, 11 men and 9 women). The patients were confirmed to have narcolepsy by the overnight polysomnography and multiple sleep latency test (MSLT) in addition to their clinical history and symptoms at St. Vincent's Hospital and Korea University Hospital Sleep Disorders Clinic. Any subjects co-morbid with other hypersomnic sleep disorders such as sleep apnea or periodic limb movements during sleep were excluded. Clinical data was collected through a semi-structured interview for narcoleptic patients. All patients and 21 control did HLA typing for the presence of DQB1*0602. Results Obtained were as Follows: 1) Mean sleep latency was 2.4 (${\pm}2.0$ minutes) and mean frequency of sleep-onset REM period was 3.0 (${\pm}1.6$) by MSLT. 2) Characteristic symptoms of narcolepsy investigated were as follows: excessive daytime sleepiness (100%), cataplexy (100%), sleep paralysis (60%), hypnagogic hallucination (70%) and disrupted nocturnal sleep (75%). 3) Strong emotional expression such as laughing (80%) and joking (70%) triggered cataplexy which affects the knee and leg region (80%) and jaw region (30%). 4) HLA-DR2 was found in 90% of patients and 35% in controls. The frequency of HLA-DQB1*0602 in patients and controls was 90%, and 24%, respectively. Conclusions: These results, which exhibit high HLA-DQB1*0602 expression in Korean patients with narcolepsy, suggest that HLADQB1*0602 could be a strong genetic marker in narcolepsy.

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Polysomnography and Multiple Sleep Latency Test (수면검사다원검사와 수면잠복기반복검사)

  • Cho, Jae Wook
    • Annals of Clinical Neurophysiology
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    • v.14 no.1
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    • pp.7-11
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    • 2012
  • Polysomnography is used to diagnose many types of sleep disorders including sleep apnea, periodic limb movement disorder, REM sleep behavior disorder, parasomnias, and narcolepsy. It is a comprehensive recording of the biophysiological changes that occur during sleep. The polysomnography monitors many body functions parameters including EEG, EOG, EMG, ECG, respiratory airflow, respiratory effort, and pulse oximetry during sleep. Multiple Sleep Latency Test (MSLT) is performed for diagnosing narcolepsy and excessive daytime sleepiness. It is usually to be done after an overnight polysomnography. The test consists of four or five 20-minute nap opportunities that are scheduled two hours apart.

A Case of Narcolepsy by Excessive Daytime Sleepiness (주간졸음증 환자로부터 기면증 1예 보고)

  • Kim, Cheon-Sik;Kim, Dae-Sik
    • Korean Journal of Clinical Laboratory Science
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    • v.37 no.3
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    • pp.216-219
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    • 2005
  • We report a case of narcolepsy. A 25-year-old man has had excessive daytime sleepiness of about 10 years durations. He awakens daily feeling exhausted and continually falls asleep during the day while engaged in such situation like reading and watching television. He has exhibited cataplexy, a sudden loss of muscular tone, brought on by emotion, usually laughter. Polysomnogram revealed increased sleep stage 1, 2 and decreased deep sleep. Multiple sleep latency test (MSLT) showed that sleep latency was 1.33 minutes and there were 3 noted sleep onset rapid eye movement (SOREM) on 5 trials. The epworth sleepiness scale (ESS) was 17/24. Typing of HLA haplotype that was positive for the $DQB1^{\ast}0602$ allele, and hypocretin-1 (orexin A) could not be detected in cerebrospinal fluid (CSF). Brain MRI showed normal image. We diagnosed his case as narcolepsy based on history of cataplexy, and three occurances of SOREM, and positive of HLA haplotype.

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Fecal microbiota analysis of obese dogs with underlying diseases: a pilot study

  • Park, Hyung Jin;Lee, Sang Eun;Kim, Hyeun Bum;Kim, Jae Hoon;Seo, Kyoung Won;Song, Kun Ho
    • Korean Journal of Veterinary Research
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    • v.55 no.3
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    • pp.205-208
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    • 2015
  • Ten dogs were enrolled in this study: two healthy dogs, two obese dogs without other medical issues and six obese dogs with underlying diseases including pemphigus, chronic active hepatitis, hyperadrenocorticism, narcolepsy, otitis media and heartworm infection. Pyrosequencing of the 16S rRNA gene to explore the gut bacterial diversity revealed that distal gut bacterial communities of samples from patients with pemphigus, otitis media and narcolepsy consisted primarily of Firmicutes, while the major phylum of the distal gut bacterial communities in patients with chronic active hepatitis and hyperadrenocorticism was Fusobacteria. Proteobacteria were the dominant phylum in heartworm infected obese patients.

The Clinical Significance of Periodic Limb Movements During Sleep in Various Sleep Disorders (다양한 수면장애의 주기성사지운동증의 임상적 의의)

  • So-Jin Lee
    • Sleep Medicine and Psychophysiology
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    • v.30 no.1
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    • pp.9-12
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    • 2023
  • Periodic limb movements during sleep (PLMS) are prevalent in various sleep disorders, such as restless legs syndrome (RLS), periodic limb movements disorder, obstructive sleep apnea (OSA), REM sleep behavior disorder (RBD), and narcolepsy. PLMS has been hypothesized to be related to the decline of dopaminergic transmission. In RLS, PLMS is suggested to be related to iron deficiency and symptom severity. PLMD is a rare sleep disorder, and the role of PLMS in PLMD has not been clearly investigated yet. PLMS in OSA, which remain after proper PAP therapy, may need further management. The clinical relevance of PLMS in RBD and narcolepsy have not been investigated thoroughly and need further studies. Whether PLMS are to be considered as a mere symptom of individual sleep disorders or not can be elucidated through studies investigating the efficacy of therapeutic approaches to reduce PLMS in various sleep disorders.

Narcolepsy Variant Presented with Difficult Waking (각성장애로 발현한 기면증의 변종)

  • Lee, Hyang-Woon;Hong, Seung-Bong
    • Sleep Medicine and Psychophysiology
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    • v.7 no.2
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    • pp.115-119
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    • 2000
  • Objectives Summary: A 20-year-old man was presented with a history of difficult waking for 10 years. He suffered from morning headache, chronic fatigue and mild daytime sleepiness but had no history of irresistible sleep attack, cataplexy, hypnagogic hallucination or sleep paralysis. Methods: Night polysomnography (PSG), multiple sleep latency test (MSLT) and HLA-typing were carried out. Results: The PSG showed short sleep latency (4.0 min) and REM latency (2.5 min), increased arousal index (15.7/hour), periodic limb movements during sleep (PLMS index=8.1/hr) with movement arousal index 2.1/hr and normal sleep efficiency (97.5%). The MSLT revealed normal sleep latency (15 min 21 sec) and 4 times sleep-onset REM (SOREM). HLA-typing showed DQ6- positive, that corresponded at the genomic level to the subregion DQB1*0601, which was different from the usual locus in narcolepsy patients (DQB1*0602 and DQA1*0102). Conclusion: Differential diagnosis should be made with circadian rhythm disorder and other causes of primary waking disorder. The possibility of a variant type of narcolepsy could be suggested with an unusual clinical manifestation and a new genetic marker.

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Nocturnal Sleep Fragmentation in Narcoleptics and Its Clinical Implications (기면병(嗜眠炳)의 야간(夜間) 수면분절(睡眠分節) 및 임상적(臨床的) 의미(意味))

  • Park, Doo-Heum;Sohn, Chang-Ho;Jeong, Do-Un
    • Sleep Medicine and Psychophysiology
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    • v.3 no.1
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    • pp.47-55
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    • 1996
  • Narcolepsy is characterized by sleep attack with excessive daytime sleepiness(EDS), cataplexy, sleep paralysis, and hypnagogic hallucination. Paradoxically, narcoleptics tend to complain of frequent arousals and shallow sleep during the night time despite their excessive sleepiness. However, nocturnal sleep fragmentation in narcoleptics is relatively ignored in treatment strategies, compared with sleep attack/EDS and cataplexy. In our paper, we attempted to investigate further on the poor nocturnal sleep in narcoleptics and to discuss possible treatment interventions. Out of consecutively seen patients at Seoul National University Sleep Disorders Clinic and Division of Sleep Studies, we recruited 57 patients, clinically assessed as having sleep attack and/or EDS. Nocturnal polysomnography and multiple sleep latency test(MSLT) were done in each of the subjects. We selected 19 subjects finally diagnosed as narcolepsy(mean age $26.0{\pm}18.3$ years, 16 men and 3 women) for this study, depending on the nocturnal polysomnographic and MSLT findings as well as clinical history and symptomatology. Any subject co-morbid with other hypersomnic sleep disorders such as sleep apnea or periodic limb movements during sleep was excluded. Sleep staging was done using Rechtschaffen and Kales criteria. Sleep parameters were calculated using PSDENT program(Stanford Sleep Clinic, version 1.2) and were compared with the age-matched normal values provided in the program. In narcoleptics, compared with the normal controls, total wake time was found to be significantly increased with significantly decreased sleep efficiency(p<.01, p<.05, respectively), despite no difference of sleep period time and total sleep time between the two groups. Stage 2 sleep%(p<.05), slow wave sleep%(p<.05), and REM sleep%(p<.01) were found to be significantly decreased in narcoleptics compared with normal controls, accompanied by the significant increase of stage 1 sleep%(p<.01). Age showed negative correlation with slow wave sleep%(p<.05). The findings in the present study indicate significant fragmentation of nocturnal sleep in narcoleptics. Reduction of REM sleep% and the total number of REM sleep periods suggests the disturbance of nocturnal REM sleep distribution in narcoleptics. No significant correlations between nocturnal polysomnographic and MSLT variables in narcoleptics suggest that nocturnal sleep disturbance in narcoleptics may be dealt with, in itself, in diagnosing and managing narcolepsy. With the objective demonstration of qualitative and quantitative characteristics of nocturnal and daytime sleep in narcoleptics, we suggest that more attention be paid to the nocturnal sleep fragmentation in narcoleptics and that appropriate treatment interventions such as active drug therapy and/or circadian rhythm-oriented sleep hygiene education be applied as needed.

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Evaluation of Cognitive Functions in Patients with Narcolepsy (기면병 환자의 인지기능 평가)

  • Jin, You-Yang;Yoon, Jin-Sang;Chung, Eun-Kyung
    • Journal of agricultural medicine and community health
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    • v.38 no.2
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    • pp.97-107
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    • 2013
  • Objective: This study aimed to evaluate attention, memory and executive function in patients with narcolepsy. Methods: This study included 23 narcoleptic patients whose diagnosis were confirmed by the International Classification of Sleep Disorders(ICSD) at Chonnam National University Hospital Sleep Disorders Clinic or an other hospital in Korea, from 2005 to 2008, as well as 23 normal controls. All participants were given an IQ test for Korean-Wechsler Adult Intelligence Scale and several neuropsychological function tests (the d2 test for attention function, the Rey Complex Figure Test for nonverbal memory, the Korean-California Verbal Learning Test [K-CVLT] for verbal memory, and the Wisconsin Card Sorting Test for executive function). Clinical features of narcoleptic patients, including the frequency of excessive daytime sleepiness, cataplexy, sleep paralysis and hypnagogic hallucination, were investigated by a structured clinical interview administered by a neuropsychiatist. Excessive daytime sleepiness was evaluated by the Epworth sleepiness scale. Results: Characteristic symptoms of narcolepsy observed in this study included excessive daytime sleepiness (n=23, 100.0%), cataplexy (n=19, 82.6%), hypnagogic hallucination (n=5, 21.7%) and sleep paralysis (n=12, 52.2%). In nocturnal polysomnographic findings, stage 2 sleep and REM latency were found to be significantly decreased in narcoleptic patients compared with the control group, and were accompanied by significant increases in stage 1 sleep. Narcoleptic patients had lower scores than the control group on total number, Total Number-Total Error, Concentration Performance and Fluctuation Rate on the d2 test, which measures attention. Also, there were significant differences between the performance of patient and control groups on the B list of the K-CVLT, which measures verbal memory. Conclusion: Narcoleptic patients showed decreased attention and verbal memory performance compared to the control group; however, in many areas, narcoleptic patients still demonstrated normal cognitive function.

How to Understand Sleep and Sleep Problems in Patients with Prader-Willi Syndrome?

  • Joo, Eun Yeon
    • Journal of mucopolysaccharidosis and rare diseases
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    • v.1 no.2
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    • pp.35-39
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    • 2015
  • Sleep problems occur frequently among patients with Prader-Willi syndrome (PWS). The most common problem is excessive daytime sleepiness (EDS) that are closely related to of sleep-related breathing disorder (SRBD) such as obstructive sleep apnea (OSA) and congenital hypoventilation syndrome. Obesity, craniofacial dysmorphism and muscular hypotonia of patients with PWS may increase the risk of SRBD. Sleep apneas can interrupt the continuity of sleep, and these disruptions result in a decrease in both the quality and quantity of sleep. In addition to SRBD, other sleep disorders have been reported, such as hypersomnia, a primary abnormality of the rapid eye movement (REM) sleep and narcolepsy traits at sleep onset REM sleep. Patients with PWS have intrinsic abnormalities of sleep-wake cycles due to hypothalamic dysfunction. The treatment of EDS and other sleep disorders in PWS are similar to standard treatments. Correction of sleep hygiene such as sufficient amount of sleep, maintenance of regular sleep-wake rhythm, and planned naps are important. After comprehensive evaluation of sleep disturbances, CPAP or surgery should be recommended for treatment of SRBD. Remaining EDS or narcolepsy-like syndrome are controlled by stimulant medication. Bright light therapy might be beneficial for disturbed circadian sleep-wake rhythm caused by hypothalamic dysfunction.

Linear/Non-Linear Tools and Their Applications to Sleep EEG : Spectral, Detrended Fluctuation, and Synchrony Analyses (컴퓨터를 이용한 수면 뇌파 분석 : 스펙트럼, 비경향 변동, 동기화 분석 예시)

  • Kim, Jong-Won
    • Sleep Medicine and Psychophysiology
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    • v.15 no.1
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    • pp.5-11
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    • 2008
  • Sleep is an essential process maintaining the life cycle of the human. In parallel with physiological, cognitive, subjective, and behavioral changes that take place during the sleep, there are remarkable changes in the electroencephalogram (EEG) that reflect the underlying electro-physiological activity of the brain. However, analyzing EEG and relating the results to clinical observations is often very hard due to the complexity and a huge data amount. In this article, I introduce several linear and non-linear tools, developed to analyze a huge time series data in many scientific researches, and apply them to EEG to characterize various sleep states. In particular, the spectral analysis, detrended fluctuation analysis (DFA), and synchrony analysis are administered to EEG recorded during nocturnal polysomnography (NPSG) processes and daytime multiple sleep latency tests (MSLT). I report that 1) sleep stages could be differentiated by the spectral analysis and the DFA ; 2) the gradual transition from Wake to Sleep during the sleep onset could be illustrated by the spectral analysis and the DFA ; 3) electrophysiological properties of narcolepsy could be characterized by the DFA ; 4) hypnic jerks (sleep starts) could be quantified by the synchrony analysis.

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