Narcolepsy（NP） is a rare central sleep disorder， and it is categorized into narcolepsy type1 （NT1） and narcolepsy type2（NT2）.The main clinical symptoms of NP include daytime lethargy， cataplexy induced by emotions， and sleep paralysis， with a peak onset during adolescence （with an age of 8‒12 years）. At present， the pathogenesis of NP remains unclear and is associated with various factors such as human leucocyte antigen （HLA）， infection， and epigenetic silencing， and the selective loss of hypocretin neurons in the hypothalamus is the key pathophysiological mechanism of NP. Pharmacological intervention is currently the main treatment method， and diagnostic delay can be as long as more than 10 years， which not only affects the social activities， academic performance， and work of patients， but also leads to mental health issues such as anxiety and depression. This article reviews the latest research findings in the epidemiology， pathogenesis， and treatment of NT1 and clarifies the deficiencies and controversies in current research， so as to provide new ideas and directions for subsequent studies.
Narcolepsy ; Cataplexy

Objective The efficacy and safety of pitolisant in the treatment of adult narcolepsy have been confirmed in clinical trials abroad， but there is a lack of data on the application of pitolisant in Chinese patients. The aim of this study is to investigate the efficacy and safety of pitolisant in the treatment of adult narcolepsy in China.Methods A total of 30 subjects were enrolled in this study and were given individualized titration once a day for 8 weeks. Epworth Somnolence Scale （EES） and daily cataplexy rate （DCR） were used as the primary outcome measures，and Clinical Global Impression-Severity scale（CGI-S） and Clinical Global Impression of Change Scale （CGI-C） were used as the secondary outcome measures；safety indicators included adverse event （AE） records and laboratory examination.Results The results showed that there were significant improvements in ESS score and number of cataplexy attacks after medication. At the end of treatment，ESS score was reduced by（7.63±4.79）（P<0.001）. For all subjects， the average daily number of cataplexy attacks was 0.83 at baseline，which was reduced significantly to （0.39±0.82）after 3 weeks of pitolisant treatment and（0.38±0.79）after 5 weeks of pitolisant treatment（P<0.05）. After the treatment ended， the median CGI-S score of excessive daytime sleepiness （EDS） improved from "severe" at baseline to "mild"（P<0.001）， and the CGI-S score of cataplexy improved from "mild" at baseline to "basically normal"（P<0.001）. Most AEs were mild and did not receive any drug treatment， and there were no significant changes in other laboratory markers used to monitor the general condition of the subjects before and after treatment. Conclusion Pitolisant has good efficacy and safety in the treatment of EDS and cataplexy in Chinese adults with narcolepsy.
Narcolepsy ; Histamine ; Cataplexy

Humans ; Cataplexy/drug therapy* ; Sleep, REM ; Dopamine ; Narcolepsy/drug therapy*

Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lysosomal lipid storage disorder. The clinical manifestations of the disorder are variable. This report describes the case of a 27-month-old girl with NP-C whose condition had been misdiagnosed as spastic cerebral palsy (CP). She had spasticity, particularly at both ankles, and gait disturbance. Magnetic resonance imaging of the brain revealed findings suspicious of sequelae from a previous insult, such as periventricular leukomalacia, leading to the diagnosis of CP. However, she had a history of hepatosplenomegaly when she was a fetus and her motor development had deteriorated, with symptoms of vertical supranuclear gaze palsy, cataplexy, and ataxia developing gradually. Therefore, NP-C was considered and confirmed with a genetic study, which showed mutation of the NPC1 gene. Thus, if a child with CP-like symptoms presents with a deteriorating course and NP-C-specific symptoms, NP-C should be cautiously considered.
Ankle ; Ataxia ; Brain ; Cataplexy ; Cerebral Palsy ; Child ; Child, Preschool ; Diagnosis ; Female ; Fetus ; Gait ; Humans ; Infant, Newborn ; Leukomalacia, Periventricular ; Magnetic Resonance Imaging ; Muscle Spasticity ; Niemann-Pick Diseases ; Paralysis

Narcolepsy is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis and hypnagogic hallucinations. Only a few studies have focused on non-rapid eye movement (NREM) and REM parasomnias in narcolepsy. We report a narcolepsy without cataplexy patient presenting parasomnia as an initial symptom. A 18-year-old boy was admitted to hospital for abnormal behavior of sitting up during sleep over 2 years. He had a symptom of lethargy without cataplexy and subjective excessive daytime sleepiness, but his family found him often asleep during daytime. He underwent 3 times of polysomnography (PSG) including 1 multiple sleep latency test (MSLT) after the last PSG. The last PSG showed 1 episode of abrupt sitting. Three sleep REM onset period was observed in MSLT which was not detect in PSG. Parasomnia as an initial symptom of narcolepsy is a rare clinical entity. The MSLT may be useful in the evaluation of patients with parasomnia and unexplained hypersomnia.
Adolescent ; Cataplexy ; Disorders of Excessive Somnolence ; Eye Movements ; Hallucinations ; Humans ; Lethargy ; Male ; Narcolepsy ; Parasomnias ; Polysomnography ; Sleep Arousal Disorders ; Sleep Paralysis

OBJECTIVES: Narcolepsy with cataplexy is a rare chronic sleep disorder characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic/hypnopompic hallucinations. The aims of the present study were comparing the health-related quality of life (HR-QOL) of patients with type I and type II narcolepy patients, and determining the factors that influence the HR-QOL in narcolepsy patients. METHODS: All patients performed night polysomnography (PSG) and multiple sleep latency test (MSLT). HR-QOL and the severity of subjective symptoms were evaluated using various questionnaires, including the Korean versions of the Medical Outcome Study Short Form-36, the Pittsburg Sleep Quality Index-Korean version, the Korean version Epworth Sleepiness Scale, and the Korean version Beck Depression Inventory-2. RESULTS: We enrolled 21 type I narcolepsy patients and 27 type II patients. Type I patients had short rapid eye movement (REM) latency on night PSG and more sleep onset REM periods on MSLT. The total score of HR-QOL was worse in patients with type I narcolepsy than in the type II narcolepsy patients. There was association between the severities of excessive daytime sleepiness, depression and the degree of worsening of QOL. CSF hypocretin level had no correlation with the scores of HR-QOL. CONCLUSIONS: These findings demonstrate that type I narcolepsy patients are sleepier, depressive, and have more burden on the HR-QOL. And the impairment in QOL of narcolepsy patients is related to the degree of excessive daytime and depressive mood.
Cataplexy ; Depression ; Hallucinations ; Humans ; Narcolepsy* ; Outcome Assessment (Health Care) ; Polysomnography ; Quality of Life* ; Sleep Paralysis ; Sleep Wake Disorders ; Sleep, REM

OBJECTIVETo observe the efficacy and safety of atomoxetine hydrochloride in children with narcolepsy.

METHODTotally 66 patients with narcolepsy who were conformed international classification of sleep disturbances (ICSD-2) diagnostic criteria treated with atomoxetine hydrochloride seen from November 2010 to December 2014 were enrolled into this study, 42 of them were male and 24 female, mean age of onset was 7.5 years (3.75-13.00 years), mean duration before diagnosis was 1.75 years (0.25-5.00 years). Complete blood count, liver and kidney function, multiple sleep latency test (MSLT), polysomnography (PGS), neuroimaging and electroencephalography (EEG) were performed for each patient. For some of the children HLA-DR2 gene and serum markers of infection were tested. The 66 cases were followed up from 2 to 49 months (average 18 months) to observe the clinical efficacy and adverse reactions.

RESULTSIn 62 cases excessive daytime sleepiness was improved, in 11 cases (16.7%) it was controlled (16.7%), in 29 cases (43.9%) the treatment was obviously effective and in 22 (33.3%) it was effective; cataplexy occurred in 54 cases, in 18 (33.3%) it was controlled, in 19 (35.2%) the treatment was obviously effective and in 10 (18.5%) effective; night sleep disorders existed in 55 cases, in 47 cases it was improved, in 14 (25.5%) it was controlled, in 20 (36.4%) the treatment was obviously effective and in 13 (23.6%) effective; hypnagogic or hypnopompic hallucination was present in 13 cases, in only 4 these symptoms were controlled. Sleep paralysis existed in 4 cases, it was controlled in only 1 case. In 18 cases attention and learning efficiency improved.Anorexia occurred in 18 cases, mood disorder in 5 cases, depression in 2 cases, nocturia, muscle tremors, involuntary tongue movement each occurred in 1 case. P-R interval prolongation and atrial premature contraction were found in 1 case.

CONCLUSIONAtomoxetine hydrochloride showed good effects in patients with narcolepsy on excessive daytime sleepiness, cataplexy and night sleep disorders, the effects on hallucinations and sleep paralysis were not significant. Adverse reactions were slight, anorexia and mood disorder were common. As a non-central nervous system stimulant, atomoxetine hydrochloride does not induce drug dependence and has no prescription limits; it has good tolerability, safety and effectiveness, it can be a good alternative in treatment of children with narcolepsy.

Adolescent ; Atomoxetine Hydrochloride ; adverse effects ; therapeutic use ; Cataplexy ; drug therapy ; Child ; Child, Preschool ; Electroencephalography ; Female ; Humans ; Male ; Narcolepsy ; drug therapy ; Neuroimaging ; Polysomnography

A 5-year-old, castrated male, Maltese was presented with history of acute flaccid paralysis. The dog was presented with sudden loss of muscle tone and involuntary movements of hind limbs. Neurologic examination revealed reduced postural reaction in the bilateral hind limbs. MRI of brain showed moderate hydrocephalus, but other examination results were normal. Based on the characteristic episodes and examination results, canine cataplexy was suspected. Treatment was initiated with clomipramine as cataplexy control. Clinical signs resolved with 3-month medication. This case demonstrates therapeutic diagnosis of cataplexy. To the author's knowledge, this is the first report of cataplexy treating with clomipramine.
Animals ; Brain ; Cataplexy ; Clomipramine ; Dogs ; Dyskinesias ; Extremities ; Humans ; Hydrocephalus ; Male ; Muscles ; Narcolepsy ; Neurologic Examination ; Paralysis

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.
Adult ; Cataplexy ; Executive Function ; Hallucinations ; Humans ; Intelligence ; Korea ; Memory ; Narcolepsy ; Sleep Paralysis ; Sleep Wake Disorders ; Verbal Learning ; Wisconsin

Narcolepsy with cataplexy (NC) is associated with hypocretin deficiency, and is thought to be an autoimmunity condition. The mean age at onset is estimated to be in the early 20s. Recent papers have addressed the response to immunotherapies in NC, with challenging results. We report a case of late-onset NC in a patient who did not benefit from early intravenous high-dose immunoglobulin (IVIg) therapy. This is the first reported attempt at using IVIg to treat an NC patient in Korea.
Autoimmunity ; Cataplexy ; Humans ; Immunoglobulins ; Immunoglobulins, Intravenous ; Immunotherapy ; Intracellular Signaling Peptides and Proteins ; Korea ; Narcolepsy ; Neuropeptides ; Orexins