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At least 559 records · Page 31Linked to original sources
PubMed2002

DRB1*1502-DQB1*0601-DQA1*0103 and DRB1*04-DQB1*0302 in Jewish hypersomnolent patients.

OBJECTIVES: Narcolepsy is a sleep disorder with a genetic association with the haplotype DRB1*1501, DQA1*0102, DQB1*0602. This haplotype has been described in different ethnic groups suffering from narcolepsy (Japanese, Caucasian, African Americans, Jews). In a recent study we have found the haplotype DRB1*1502, DQB1*0601, DQA1*0103 in three patients with hypersomnolence. The similarity of this haplotype to the narcoleptic haplotype DRB1*1501, DQB1*0602 and DQA1*0102 has raised the question of whether this haplotype is a marker for sleepiness, or rather indicates a variant of non-cataplectic narcolepsy. This study was conducted to further investigate this question. METHODS: HLA-DNA analysis was carried out in 20 healthy Jewish patients (age 23.9+/-6.3 years; 13 Ashkenazi, seven non-Ashkenazi) who had objective measures of hypersomnolence. All underwent whole-night polysomnography, multiple sleep latency test and tissue typing. RESULTS: HLA-DNA analysis revealed HLA-DR2 in eight patients of whom five (25%) carried the haplotype DRB1*1502, DQB1*0601, DQA1*0103 (vs. 1.4% in the Israeli population, P<0.0001). Six patients were diagnosed as non-cataplectic narcoleptics. Five of them carried the haplotype DRB1*1502, DQB1*0601, DQA1*0103. Forty percent of the patients carried the haplotype DRB1*04, DQB1*0302, which was not statistically different from its prevalence in the healthy Israeli population (25%). CONCLUSIONS: This is the first report describing the haplotype DRB1*1502, DQB1*0601, DQA1*0103 in narcoleptic patients (non-cataplectic). This haplotype is close but different from the already known narcoleptic haplotype DRB1*1501, DQA1*0102, DQB1*0602. We assume that this haplotype represents a variant of non-cataplectic narcolepsy rather than association with hypersomnolence. However, in order to conclude whether this haplotype is a marker for the lack of cataplexy, or represents a variant of non-cataplectic narcolepsy, a larger group of patients should be investigated.

Journal Article↗
PubMed2000

Clinical and polysomnographic features in DQB1*0602 positive and negative narcolepsy patients: results from the modafinil clinical trial.

Background: Narcolepsy, a neurological disorder characterized by excessive daytime sleepiness and abnormal REM sleep, is known to be tightly associated with the human leukocyte antigen (HLA) DQB1*0602.Methods: In this study, baseline data collected for a large clinical trial involving 504 narcolepsy patients were used to compare clinical and polysomnographic features of narcolepsy patients with and without HLA-DQB1*0602. Comparisons were adjusted for possible confounding factors and linear regression modeling was used to extract the best predictors for DQB1*0602 positivity.Results: As previously reported, cataplexy was the best clinical predictor for DQB1*0602 positivity. At the polysomnographic level, subjects with DQB1*0602 were found to have a significantly more disrupted nocturnal sleep, a much shorter nocturnal rapid eye movement (REM) sleep latency and more multiple sleep latency test abnormalities (increased number of sleep onset REM periods and decreased mean sleep latency). We also found that subjects with DQB1*0602 had a much higher incidence of periodic limb movements during sleep, confirming the notion that this symptom is genuinely associated with the narcolepsy phenotype.Conclusions: These results support the notion that HLA-DQB1*0602-positive narcolepsy patients are more etiologically homogenous than HLA-DQB1*0602-negative narcoleptic patients.

Journal Article↗
PubMed2005

Hypocretins (orexins) and sleep-wake disorders.

Since their discovery in 1998, the hypocretins (orexins)-peptides that are produced by a group of neurons situated in the posterolateral hypothalamus--have been shown to excite many CNS areas including many neuronal systems that regulate sleep and wakefulness. Animal studies indicate that hypocretins play a part in the regulation of various functions including arousal, muscle tone, locomotion, regulation of feeding behaviour, and neuroendocrine and autonomic functions. A link between hypocretin deficiency and narcoleptic symptoms was first shown in canine and rodent models of narcolepsy. Hypocretin deficiency, as shown by low or absent concentrations in CSF, was subsequently found in 90% of patients with sporadic narcolepsy-cataplexy, and less commonly in familial narcolepsy. In most other sleep-wake and neurological disorders, hypocretin concentrations are normal. Low concentrations were also found in hypothalamic disorders, acute traumatic brain injury, and a few other disorders. The exact function of the hypocretin system in sleep-wake regulation and its pathophysiological role in hypocretin-deficient and non-deficient narcolepsy as well as in non-narcoleptic, hypocretin-deficiency syndromes remain unclear.

Animals↗
PubMed2006

The protean manifestations of childhood narcolepsy and their misinterpretation.

Narcolepsy often begins in childhood but is infrequently recognized, partly because of its many manifestations that can be confused with other conditions. The clinical presentations of excessive sleepiness, cataplexy, hallucinatory phenomena, and sleep paralysis (not always occurring together) are very varied. The picture may be further complicated by the occurrence of automatic behaviour, memory and visual problems, and associated sleep disorders, as well as the psychological and social consequences of having narcolepsy. Not surprisingly, therefore, misinterpretation of the symptoms as primarily psychological, or otherwise physical, may well occur leading to inappropriate management including initial referral to psychiatric or educational rather than neurological or sleep disorder services. The wide-ranging and special features of childhood narcolepsy need to be appreciated by health care and other professionals as well as by parents.

Child↗
PubMed2003

Narcolepsy: differential diagnosis or etiology in some cases of bipolar disorder and schizophrenia?

Does narcolepsy, a neurological disease, need to be considered when diagnosing major mental illness? Clinicians have reported cases of narcolepsy with prominent hypnagogic hallucinations that were mistakenly diagnosed as schizophrenia. In some bipolar disorder patients with narcolepsy, the HH resulted in their receiving a more severe diagnosis (ie, bipolar disorder with psychotic features or schizoaffective disorder). The role of narcolepsy in psychiatric patients has remained obscure and problematic, and it may be more prevalent than commonly believed. Classical narcolepsy patients display the clinical "tetrad"--cataplexy, hypnagogic hallucinations, daytime sleep attacks, and sleep paralysis. Over 85% also display the human leukocyte antigen marker DQB1*0602 (subset of DQ6). Since 1998, discoveries in neuroanatomy and neurophysiology have greatly advanced the understanding of narcolepsy, which involves a nearly total loss of the recently discovered orexin/hypocretin (hypocretin) neurons of the hypothalamus, likely by an autoimmune mechanism. Hypocretin neurons normally supply excitatory signals to brainstem nuclei producing norepinephrine, serotonin, histamine, and dopamine, with resultant suppression of sleep. They also project to basal forebrain areas and cortex. A literature review regarding the differential diagnosis of narcolepsy, affective disorder, and schizophrenia is presented. Furthermore, it is now possible to rule out classical narcolepsy in difficult psychiatric cases. Surprisingly, psychotic patients with narcolepsy will likely require stimulants to fully recover. Many conventional antipsychotic drugs would worsen their symptoms and make them appear to become a "chronic psychotic," while in fact they can now be properly diagnosed and treated.

Bipolar Disorder↗
PubMed1999

Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome.

Sleep-wake problems are common in specific inborn errors of metabolism and structure of the central nervous system. Psychological factors, behavioural difficulties, metabolic disturbances, and widespread rather than focal damage to the nervous system are present in many of these diseases and all influence the sleep-wake cycle. However, a number of conditions cause relatively focal damage to the neuroanatomical substrate of sleeping and waking. These include fatal familial insomnia, with involvement of the prion protein gene on chromosome 20, Norrie disease, the Prader-Willi syndrome and the Moebius syndrome. The last three important conditions, although rare, are considered in detail in this review. They result in sensory deprivation, hypothalamic and mid-brain damage, and involve the X-chromosome, chromosome 15, and chromosome 13, respectively. These conditions cause a wide variety of sleep disturbance, including parasomnias, daytime sleepiness, and a condition like cataplexy. The place of the relevant gene products in normal sleep regulation needs further exploration.

Adolescent↗
PubMed2000

Night-time sleep and daytime sleepiness in narcolepsy.

This report describes night-time sleep and daytime sleepiness in a large (N=530) sample of patients meeting the International Classification of Sleep Disorders criteria for diagnosis of narcolepsy. Sleep data were obtained from polysomnographic recordings on two consecutive nights. Sleepiness was assessed using the Multiple Sleep Latency Test, the Maintenance of Wakefulness Test and the Epworth Sleepiness Scale. Analysis revealed that sleep was mild to moderately disturbed on both recording nights. A first-night effect was suggested by decreased REM latency and increased percentage REM and slow-wave sleep on the second night. Sleepiness and sleep disturbance varied across patient subgroups created based on patient ethnicity and on the presence/absence of cataplexy, sleep apnoea, and periodic limb movements. Covariation of sleep and sleepiness measures across patients was significant but weak. Strong association was found between subgroup means of sleep and sleep disturbance measures. The findings reported here show that sleepiness and sleep disturbance vary across patient subgroups and that sleep disturbance is related to, although unable to account, for the pathological sleepiness of narcolepsy.

Adolescent↗
PubMed1999

Two cases of HLA-DR2-negative hypersomnia manifesting sleep-onset rapid eye movement periods in the multiple sleep latency test.

We encountered two cases expressing excessive daytime sleepiness (EDS) and manifesting two or more sleep-onset rapid eye movement (REM) periods in the multiple sleep latency test. Unbearable daytime sleepiness occurred abruptly, which usually led to short-lasting naps, after which the patients felt refreshed. The EDS was successfully reduced by treatment with methylphenidate. In spite of these features similar to narcolepsy, these cases of REM hypersomnia did not present cataplexy or other auxiliary symptoms of narcolepsy, and, furthermore, the class-II human leukocyte antigen DR2 appeared to be negative.

Adult↗
PubMed2001

Narcolepsy and other non-SAS hypersomnia in sleep breathing disorders clinic.

Four of the 708 snorers (0.56%), referred to our sleep breathing disorders clinic for the past 2 years were diagnosed as having narcolepsy-cataplexy. Detecting HLA DRB1*1501/DQB1*0602 positive was informative for differentiating genuine narcolepsy from non-sleep apnea syndrome (non-SAS) hypersomnia in our clinic. A non-SAS obese boy, diagnosed as having essential hypersomnia syndrome, was found to be HLA DRB1*1502/DQB1*0601 positive. His hypocretin concentration was 206 pg/mL in the cerebrospinal fluid.

Adolescent↗
PubMed2001

Comparison in symptoms between aged and younger patients with narcolepsy.

We investigated the age-related changes in symptoms in narcolepsy. Fifty patients, 65-year-old and over (aged group), were recruited from the National Narcolepsy Registry. Thirty-four patients, younger than 65 (younger group), were selected by random sampling. Although there was no difference in the age of disease onset between the two groups, the age of diagnosis was significantly earlier for the younger group. Methylphenidate was used significantly more in the aged group, and modafinil in the younger group. The aged group had lower total scores on the Ullanlinna Narcolepsy Scale, because the scores for cataplexy were significantly less for the aged group. There was no significant difference in excessive daytime sleepiness between the two groups.

Adolescent↗
PubMed2005

[A mechanism for gamma-hydroxybutyrate (GHB) as a drug and a substance of abuse].

Gamma-hydroxybutyrate (GHB) is mainly known because of its popularity as a drug of abuse among young individuals. However this substance increases slow-wave deep sleep and the secretion of growth hormone and besides its role in anaesthesia, it is used in several therapeutic indications including alcohol withdrawal, control of daytime sleep attacks and cataplexy in narcoleptic patients and is proposed for the treatment of fibromyalgia. GHB is also an endogenous substance present in several organs, including brain where it is synthesized from GABA in cells containing glutamic acid decarboxylase, the marker of GABAergic neurons. GHB is accumulated by the vesicular inhibitory aminoacid transporter (VIAAT) and released by depolarization via a Ca2+ dependent-mechanism. A family of GHB receptors exists in brain which possesses hyperpolarizing properties through Ca2+ and K+ channels. These receptors--one of them has been recently cloned from rat brain hippocampus--are thought to regulate GABAergic activities via a subtle balance between sensitized/desensitized states. Massive absorption of GHB desensitize GHB receptors and this modification, together with a direct stimulation of GABAB receptors by GHB, induce a perturbation in GABA, dopamine and opiate releases in several region of the brain. This adaptation phenomenon is probably responsible for the therapeutic and recreative effects of exogenous GHB.

Animals↗
PubMed2000

Rapid-eye-movement sleep involves the memory-conversion circuits in a brain model.

People can remember the content of a dream in rapid eye movement (REM) sleep but cannot do so in slow-wave sleep. According to a brain model, memory is stored in encoding synapses as presynaptic axonal 'on-off' patterns and modulating synapses help encoding synapses convert short-term memory into long-term memory. These lead to the hypothesis that REM sleep involves modulating synapses of the memory-conversion circuits including the anterior nuclei and dorsomedial nuclei of the thalamus. Cortical neurons get more rest in slow-wave sleep than in REM sleep. The locus coeruleus, raphe nuclei, and tuberomammillary nuclei get more rest during REM sleep when these nuclei cease to fire. The paralyses of peripheral muscles during REM sleep and cataplexy, and cessation of chorea, athetosis, hemiballismus, and parkinsonism tremor during sleep may result from spinal cord inhibition by the gigantocellular nuclei and raphe nuclei at the reticular formation. Sleep and wake relate to the light-dark cycle on the Earth. Were the light-dark cycle 50 hours a day, the human circadian clock might be around 50 hours. With increasing use of artificial light to keep people awake at night, it may affect the circadian rhythm and firing rate of neurons, the presynaptic axonal 'on-off' patterns as content of consciousness, and the mood.

Brain↗
PubMed2002

Undetectable levels of CSF hypocretin-1 (orexin-A) in two prepubertal boys with narcolepsy.

We report on two prepubertal narcoleptic boys with undetectable levels of hypocretin-1 (orexin-A) in their cerebrospinal fluid (CSF). The disease onset times were 6 and 8 years, and CSF was collected 8 and 20 months after the onset, respectively. The initial symptoms were excessive daytime sleepiness, cataplexy and disrupted nocturnal sleep. Both subjects are DRB1*1501 and DQB1*0602 positive. The measurement of CSF hypocretin-1 is valuable for the decisive diagnosis of narcolepsy and for selecting the type of treatment in prepubertal children. Our results suggest that a significant degree of hypocretin deficiency is already present at the disease onset.

Age Factors↗
PubMed2002

[Comorbidity in narcoleptic patients].

BACKGROUND AND OBJECTIVE: Narcolepsy is a rare disease which remains undiagnosed in 90 %. The international literature so far has paid little attention to comorbid disorders. PATIENTS AND METHODS: In preparation for a German Narcolepsy Register this pilot study evaluated data from hospital records of 106 narcolepsy patients (60 men, 46 women, 8-83 years, mean 45.1 years) retrospectively emphasising comorbid diseases. RESULTS: The parasomnias sleepwalking and nightmares were 6 times as frequent as in the general population. With respect to the HLA findings the extremely high frequency of REM behavior disorder contributes to the assumption of a common pathomechanism. Obstructive sleep apnea and periodic limb movement disorder (PLMD) occurred much less than described in literature, while the results on obesity, headache and depression are in line with published findings. CONCLUSION: Diagnosis of one of these comorbid disorders should always be followed by thorough investigation for symptoms of narcolepsy i. e. excessive daytime sleepiness, sleep attacks and cataplexy.

Adolescent↗
PubMed1987

Disorders of excessive sleepiness: narcolepsy and hypersomnia.

Besides sleep apnea, the main disorders of excessive daytime sleepiness include narcolepsy and hypersomnia. Narcolepsy is characterized by periods of irresistible sleepiness and sleep attacks of brief duration and, most often, by one or more of the auxiliary symptoms: cataplexy, sleep paralysis, and hypnogogic hallucinations. Generally, sleepiness and sleep attacks in hypersomnia are of longer duration and are more resistible than in narcolepsy; also, the auxiliary symptoms are absent. There are three types of hypersomnia: idiopathic, secondary, and periodic. Nocturnal sleep is typically disrupted in narcolepsy, whereas in idiopathic hypersomnia it is prolonged and in secondary hypersomnia it is variable. The exact causes of narcolepsy and idiopathic hypersomnia are unknown; however, there is evidence for genetic predisposition for either disorder. In secondary hypersomnia causative factors include: neurologic, such as head injuries, cerebrovascular insufficiency, and brain tumors; general medical, such as metabolic disorders, various intoxications, and conditions leading to brain hypoxia; and psychiatric, most notably depression. Although the cause of periodic hypersomnia is unclear, most research supports the notion of underlying organic disease. Often, the evaluation of patients with excessive daytime sleepiness can be completed in the office setting, based on the sleep history and a thorough neurologic, general medical, and psychiatric assessment. Whenever indicated, ancillary laboratory studies, such as computed tomography and magnetic resonance scans, should be performed. Sleep laboratory recordings generally are not necessary unless there is suspicion of sleep apnea or narcolepsy in the absence of auxiliary symptoms.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1987

Clinical neuropharmacology of sleep disorders.

Within the context of the comprehensive treatment of sleep disorders, which includes medical, neurologic, psychiatric, and social interventions, use of medication is often indicated. Among the three benzodiazepine hypnotics that are available in the United States for the treatment of insomnia, flurazepam is effective for both sleep induction and maintenance, and it retains most of its efficacy over a 4-week period of nightly administration; temazepam is effective only for sleep maintenance, and triazolam improves both sleep induction and maintenance with initial but not with continued administration. Rebound phenomena are more frequent and intense with the more rapidly eliminated drug, triazolam, and to a lesser degree with temazepam. Also, with triazolam, certain behavioral side effects, such as amnesia and psychotic-like symptoms, have been reported. With flurazepam, which is a slowly eliminated benzodiazepine, daytime sedation is more frequent than with the other two drugs. When insomnia is secondary to major depression, antidepressant medication should be administered. Methylphenidate, amphetamines, or other stimulant medications are used for the symptomatic treatment of the sleepiness and sleep attacks of narcolepsy and hypersomnia. For cataplexy and the other two auxiliary symptoms of narcolepsy, imipramine or other tricyclics are the drugs of choice. Protriptyline and medroxyprogesterone have been used in treating mild cases of obstructive sleep apnea, but their efficacy is limited. Similarly, for the treatment of central sleep apnea, medroxyprogesterone and acetazolamide have shown only limited effects. Medication for patients with sleepwalking, night terrors, or nightmares should be prescribed judiciously, and primarily when treatment of an underlying psychiatric condition is desired. The neuropharmacology of sleep should also consider drugs that may cause sleep disorders. Medications with sleep disturbing effects include various antihypertensives, bronchodilators, and the energizing antidepressants. Withdrawal of REM-suppressant drugs, such as the barbiturates, may cause nightmares in association with a REM rebound. Occasionally, a drug or a combination of drugs may produce somnambulistic-like activity in some patients.

Antidepressive Agents↗
PubMed1981

Sleep paralysis among medical students.

Sleep paralysis is a sensation of an inability to speak or move other muscles when falling asleep or awakening. Sleep paralysis by itself has been reported as occurring infrequently and many clinicians are uncertain of its significance. In contrast, sleep paralysis in conjunction with sleep attacks has been reported as a concomitant of narcolepsy. To further examine the incidence of sleep paralysis, the responses of 80 first-year medical students, 16.25% had experienced predormital, postdormital, or both types of sleep paralysis. These episodes occurred infrequently--only once or twice for most of these students. Reports of sleep paralysis were not associated with sleep attacks or cataplexy. These results support two previous studies which found that sleep paralysis alone occurs frequently among normals.

Adult↗
PubMed2002

Sleep in patients with treated Wilson's disease. A questionnaire study.

OBJECTIVE: To examine general sleep habits and sleep disturbances among patients with treated Wilson's disease (WD), and in comparison with an age- and sex-matched reference group (RG). METHODS: Twenty-four patients with WD with a mean (+/-s) age of 35.1 +/- 8.7 years and a disease duration of 17.7 +/- 5.1 years were investigated using a standardized sleep questionnaire comprising 87 questions concerning sleep habits, sleeping difficulties, demographic and lifestyle variables. The results were compared with those from a random sample of 72 individuals. RESULTS: There was no significant difference in sleep time during the night, but WD patients had a significantly greater number of nocturnal awakenings compared with the RG. Fifty-nine per cent of the WD patients reported frequently being awake for more than 30 min during the night. Number of nocturnal awakenings was correlated to nightmares and palpitations only in the WD group. WD patients complained significantly more often than the RG over not feeling rested after sleep, taking frequent naps and fatigue during the daytime. Moreover, sleep paralysis and cataplexy occurred more often in the WD patients than in the RG. CONCLUSION: The sleep pattern of patients with treated WD differed from that of the reference group. The spectrum of reported symptoms by patients with treated WD suggests an altered REM sleep function. Future studies with objective methods are required to elucidate the mechanisms involved.

Adult↗