Traditional biomarkers in narcolepsy: experience of a Brazilian sleep centre

Coelho, Fernando Morgadinho Santos; Pradella-Hallinan, Márcia; Pedrazzoli, Mário; Soares, Carlos Augusto Senne; Fernandes, Gustavo Bruniera Peres; Gonçalves, André Leite; Tufik, Sérgio; Bittencourt, Lia

doi:10.1590/s0004-282x2010000500007

Cited by 9 publications

(11 citation statements)

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“…It is well known that the present diagnostic criteria for the diagnostic f narcolepsy depend on the clinical findings and electrophysiological studies. The diagnostic criteria for narcolepsy are the sleep multiple latency test demonstrating average latencies of less than 8 min and, at least, two episodes of REM sleep during the five nap opportunities in adults [4] .…”

Section: Discussionmentioning

confidence: 99%

“…In MS, we might find necrosis in several areas of the brain stem, stem and high vertebral stem hypoplasia, besides nuclear agenesis of cranial nerves. Although the most accepted theory of narcolepsy is the one of autoimmunity with destruction of the hypocretin-producing cells in the hypothalamus, the physiology of narcolepsy is still unclear [4] . Expansive processes of the medium line such as craniopharyngiomas, vascular and demyelinating lesions of the brain stem and hypothalamus have been related to signs and symptoms of narcolepsy in some patients [5,6,8] .…”

Section: Discussionmentioning

confidence: 99%

“…The onset of symptoms appears between 15 and 25 years of age. It is characterized by incontrollable attacks of sleep (with frequent naps with REM sleep) during the day, being classically described by an association between diurnal excessive sleepiness, sleep fragmentation, cataplexy, sleep paralysis and hypnagogic or hypnopompic hallucinations [4] . Although there is an association between the histocompatibility complex DR2/DQB1⁎0602 and narcolepsy, its etiology remains unknown.…”

Section: Introductionmentioning

confidence: 99%

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Moebius syndrome and narcolepsy: A case dissertation

et al. 2014

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Moebius syndrome (MS) is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Moebius syndrome and narcolepsy: A case dissertation

et al. 2014

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“…Some HLA alleles can make resistance to some diseases, but on the other hand some HLA alleles especially HLA class II alleles can make susceptibility to several diseases. There is strong evidence suggesting that a specific HLA allele is related to a sleep disorder called Narcolepsy that shared with OSA the major symptoms of excessive day time sleepiness, this HLA allele is [13][14][15][16][17][18] . The HLA-DQB1*0602 allele was also found to be associated with OSA 19,20 .…”

Section: Introductionmentioning

confidence: 99%

Human Leukocyte Antigen Genetic Variations in Obstructive Sleep Apnea Patients that were positive for HLA-DQB1*0602.

Al-Qatarneh

Momany

Abuharfil

et al. 2019

Bangladesh J Med Sci

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Background: Genetic variations in the HLA system may cause susceptibility to a large number of autoimmune and infectious diseases, and the complexity of HLA makes it hard to investigate HLA types associated with diseases. The association between HLA and Obstructive Sleep Apnea (OSA) is not well investigated due to the complexity of OSA pathogenesis; including genetic and non-genetic in different populations. Our previous study using PCR-SSPs technique showed that HLA-DQB1*0602 allele is associated with almost 6 times increase in risk in North Jordan OSA patients. Aim: The aim of this study was to see if there are any HLA genetic variations using DNA sequencing technique in the region in which HLA-DQB1*0602 is located that might interact with HLA-DQB1*0602 and affect OSA development in OSA patients who were positive for HLA-DQB1*0602 allele. Result: The DNA sequencing results showed 8 nucleotide substitution variations, which are p.G77E (c.230G>A), p.R80R (c.240C>G), p.Q85L (c.254A>T), p.R87P (c.260G>C), p.Y69D (c.205T>G), p.A70V (c.209C>T), p.A70A (c.210G>A), p.Y79Y (c.237C>T). Although only 5 variants resulted in amino acid change, all 8 variants were included in the statistical analysis, and none of these genetic variants was significant (p-value> 0.05). Additionally, eight haplotypes were detected. Some of these haplotypes might have a role in disease development through the interaction with HLA-DQB1*0602 and other genetic variants or could be as markers for OSA by the mechanism of linkage disequilibrium. Conclusion: Further studies are needed to explain the pathogenesis of OSA in terms of possible self or non-self-antigens involved. Bangladesh Journal of Medical Science Vol.18(3) 2019 p.473-478

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“…Narcolepsy is a chronic disease in which there is excessive sleepiness (ES) with sleep attacks and with a prevalence of 1/4000 individuals in the general population. It is classically characterized by ES, cataplexy (loss of muscle tonus), sleep paralysis (body immobility during the transition awake/sleep cycle), hypnagogic hallucinations (dreams during the awake/sleep transition cycle) and fragmented sleep [1,2] .…”

Section: Introductionmentioning

confidence: 99%

Cataplexy as a side effect of modafinil in a patient without narcolepsy

et al. 2014

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Narcolepsy is a disease in which there is diurnal excessive sleepiness with sleep attacks and a prevalence in the general population of 1/4000 individuals. Classically, it is characterized by cataplexy, sleep paralysis, hypnagogic hallucinations and fragmented sleep. The use of modafinil in the treatment of narcolepsy is the first option of treatment for diurnal excessive sleepiness.Although considered a safe drug for use in patients with narcolepsy, being utilized for more than 20 years, modafinil possesses a series of side effects, some of them still not fully researched or described.Side effects such as headache, nausea, anxiety, insomnia, lumbago, diarrhea, dyspepsia, rhinitis and vertigo are the most frequent. However, the clinical follow-up of patients under treatment with modafinil must be intensive and the side effects ought to be noted and evaluated. The under-response to treatment or the unexpected side effects must always be directed to differential diagnostics.The objective of this article is to describe an unexpected side effect of the use of modafinil in a patient with incorrect diagnosis of narcolepsy.

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Traditional biomarkers in narcolepsy: experience of a Brazilian sleep centre

Cited by 9 publications

References 10 publications

Moebius syndrome and narcolepsy: A case dissertation

Moebius syndrome and narcolepsy: A case dissertation

Human Leukocyte Antigen Genetic Variations in Obstructive Sleep Apnea Patients that were positive for HLA-DQB1*0602.

Cataplexy as a side effect of modafinil in a patient without narcolepsy

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