Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:O75628 (REM)
 5,581 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

MSLT and immunogenetic findings in two unrelated Italian subjects with recurrent monosymptomatic hypersomnia are reported. In both patients MSLT documented a markedly increased daytime sleep propensity during the attacks without augmented REM sleep pressure. Both patients share the same HLA haplotype (HLA-DR1, DQ1) which has been found in Kleine-Levin syndrome. This makes these subtypes of recurrent hypersomnia indistinguishable one from the other, under the immunogenetic profile, but permits differentiation from narcolepsy which is HLA-DR2, DQ1 closely linked.
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PMID:Electrophysiological and immunogenetic findings in recurrent monosymptomatic-type hypersomnia: a study of two unrelated Italian cases. 825 76

Narcolepsy is a rather unknown but not exceptional condition. Its prevalence, 2 to 6/10000, is ranging among this of multiple sclerosis. Narcolepsy is remarkable for clinical, polygraphic and immunogenetic features which make it a kind of model of disorders of alertness. It was first described in 1877. It has recently benefited from consistent pathophysiological progresses, which have been facilitated by the discovery of a natural canine model. The two main symptoms are irresistible and refreshing episodes of sleep and cataplexy a loss of muscle tone emotionally triggered. Polygraphically the sleep onset REM period is the major feature. Immunogenetically the condition is remarkable for an almost 100% association with HLA DR2-DQ1. Narcolepsy is a debilitating, chronic condition. Its treatment is threefold including stimulants against excessive daytime sleepiness and irresistible episodes of sleep, modafinil a new compound with awakening properties has just been introduced, antidepressants against cataplexy and associated symptoms and hypnotics against disrupted sleep.
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PMID:[Narcolepsy]. 903 28

The narcolepsy-cataplexy syndrome is a disorder of unknown aetiology, characterized by excessive daytime sleepiness associated with cataplexy and other REM sleep phenomena. Diagnosis is based on the clinical findings, although this may be difficult especially with respect to confirming the cataplexy. Objective tests, such as typing for HLA, DR2DQ1 (DRw15DQw6, WHO90) and above all TMLS (average latency < 5 mn and two or more onsets of sleep in the phases REM and SOREMP's) is of great help. However, the exact diagnostic significance of some aspects of these tests and their parameters is still under discussion. In this paper we review our series of cases consisting of fourteen patients who fulfil the clinical diagnostic criteria required in the ICSD-1990. TMLS and HLA typing was done for all. Of the HLA types, DQ1 was present in all our patients, unlike DR2 which was not found in two patients. Regarding TMLS, the average latency < 5 mn is a parameter met by all cases, although one did not have SOREMP's. The findings of the objective tests done on our patients are in agreement with those described by other authors. They underline the significance of the support they lend to the diagnosis. However, they are not the definite answer to the problem.
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PMID:[Diagnostic difficulties in the narcolepsy-catalepsy syndrome: with reference to our series of cases]. 914 37

Primary wake disorders encompass various conditions of excessive daytime sleepiness and/or increased nighttime sleep, of unknown origin beginning most often in adolescence and of chronic or recurrent natural history. The best known of these conditions is narcolepsy associating two major clinical features, irresistible episodes of sleep, sleep onset REM periods and an almost constant association with HLA DR2-DQ1. The prevalence of the condition is close to the one of multiple sclerosis but positive diagnosis requires most often over 10 years to be made. The treatment of excessive daytime sleepiness has recently benefited from a new non-amphetamine awakening compound, modafinil, active in 60 to 70 p. 100 of the cases. The treatment of cataplexy still relies on antidepressants, tricyclics or selective serotonin reuptake blockers. Major advances in pathophysiology and pathogeny have been obtained through a natural model of the disease, canine narcolepsy. Pharmacological studies point to the importance of alpha-1 b adrenergic mechanisms in cataplexy, while dopaminergic systems seem more involved in excessive daytime sleepiness. As concerns genetics, the HLA DQB1*0602 gene predisposes to narcolepsy. In the canine model it is mirrored by an autosomal recessive gene showing a strong homology with the human immunoglobulin gene mu-switch. Familial studies have shown that besides typical phenotypes, attenuated forms of the condition characterized by isolated recurrent daytime naps and/or lapses into sleep do exist. In addition one or several other genes may be involved. Narcolepsy is multifactorial, including one or several genes as well as environmental factors. Idiopathic hypersomnia is noted for very long night sleep, difficulty waking up and more or less constant excessive daytime sleepiness. In contrast with narcolepsy sleep in not refreshing. There is no polysomnographic or immunogenetic special feature. Idiopathic hypersomnia is 10 times less frequent than narcolepsy. It is often overdiagnosed due to insufficient knowledge of other causes of excessive daytime sleepiness such as the upper airway resistance syndrome. Modafinil is also of great value in the treatment of idiopathic hypersomnia. In the absence of an animal model, pathophysiology and pathogeny are still poorly understood. Even rarer is the Kleine-Levin syndrome which is easily distinguishable through its recurrent character and its tendency to progressively disappear. It mainly occurs in early adolescent males. Its main features are episodes of sleep of a week duration recurring at a several months' interval along with disturbances of alimentary and sexual behavior. There is no satisfactory treatment of hypersomniac episodes. On the other hand a prophylactic treatment with carbamazepine or lithium may be active. Pathophysiology remains unsettled in spite of some evidence of a hypothalamic functional disturbance.
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PMID:[Wake disorders. I. Primary wake disorders]. 977 32

We report a 24-year-old man with narcolepsy initially suffered from cataplexy and sleep paralysis. From May 2000, at age 23 he experienced two kinds of recurrent episodes of weakness without altered consciousness; one was provoked by emotion and excitement, the other occurred spontaneously on onset of sleep without hallucination. He denied having daytime sleepiness and did not experience hypnagogic hallucinations. In July 2000, at our hospital he received the first medical examinations, of which physical and neurological results were unremarkable. A magnetic resonance imaging scan of the brain also gave unremarkable results. The initial diagnosis was epilepsy, and anti-convulsant drugs were begun in August 2000. The weakness episodes were not lessened by the treatment with carbamazepine, sodium valproate or clonazepam, and he was admitted to our clinic in April 2001 for further examinations. Human leukocyte antigen testing was positive for DR15 (DR2) and DQ6 (DQ1). The routine electroencephalographam detected no epileptic discharge or paradoxical alpha blocking. A polysomnogram showed a sleep onset REM sleep period and sleep fragmentation, but there was no apnea or periodic leg movements. A multiple sleep latency test showed a mean sleep latency of 1.8 min and REM sleep in three of five naps. These findings suggested probable narcolepsy, so we examined the hypocretin-1 (orexin A) concentration in his cerebrospinal fluid (CSF). It was below the detection limit of the assay (< 40 pg/mL). The final diagnosis in April 2001 was narcolepsy. Making an initial diagnosis of incomplete or atypical narcolepsy is difficult for clinicians. A delay in diagnosis, however, may produce personal and social problems for narcoleptic patients. We believe that an examination of CSF hypocretin-1 aids in the early diagnosis of narcolepsy.
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PMID:[Nacrolepsy manifesting initially as cataplexy and sleep paralysis: usefulness of CSF hypocretin-1 examination for early diagnosis]. 1247 94