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FISIOPATOLOGIA DA (DE LA) NARCOLEPSIA

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A ((La) narcolepsia é uma fascinante doença (es una enfermedad fascinante) que integra a neurologia, a imunologia, a medicina do sono (del sueño), a psiquiatria e a genética.
Autor:
Fernando Morgadinho santos coelho
Columnista Experto de SIIC

Institución:
UNIFESP

Artículos publicados por Fernando Morgadinho santos coelho
Coautores
Márcia Pradella-Hallinan* Sérgio Tufik* Lia Rita Azeredo Bittencourt* 
MD, PhD, UNIFESP, San Pablo, Brasil*

FISIOPATOLOGIA DA (DE LA) NARCOLEPSIA

Resumen
Introdução: A narcolepsia é um (es un) distúrbio primário do (del) sistema nervoso central com uma prevalência ao redor (alrededor) de 0.02%. A narcolepsia é caracterizada por sonolência (somnolencia) diurna excessiva, cataplexia, alucinações hipnagógicas, paralisia do sono (del sueño) e fragmentação do sono. Diagnóstico: O diagnóstico da narcolepsia é estabelecido pela clínica e análise de cinco cochilos (sueño corto) diurnos durante o teste (prueba) de múltiplas latências do sono. Fisiopatologia: A fisiopatologia da narcolepsia não é totalmente esclarecida (no está totalmente dilucidada) . Existem várias teorias que são discutidas. Há (Existe) uma maior prevalência do alelo HLA-DQB1*0602 e uma diminuição da concentração da hipocretina-1 na forma de narcolepsia associada à cataplexia. Recentemente foram descritos diferentes padrões no loco (en el locus) do receptor de linfócito T alfa e a presença de anticorpos específicos tribbles homolog 2 em pacientes com narcolepsia. Estes achados (hallazgos) fortalecem a teoria imunológica. Tratamento: O tratamento da narcolepsia deve garantir (garantizar) a integração social e familiar podendo ser dividido em comportamental e medicamentoso. Conclusão: A narcolepsia é uma fascinante doença (enfermedad) que integra a neurologia, a imunologia, a medicina do sono, a psiquiatria e a genética. Pacientes com narcolepsia possuem prejuízo (presentan dificultades) no campo pessoal, profissional e familiar. Embora muitos avanços tenham sido feitos (Aunque se lograron muchos avances) , a melhor ferramenta ainda (la mejor herramienta aún) é a (es la) informação para os colegas médicos e para a população em geral.

Palabras clave
narcolepsia, diagnóstico e trataminto, genética, inmunología


Artículo completo
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Pathophysiology of narcolepsy

Abstract
Introduction: Narcolepsy is a primary disturbance of the Central Nervous System with a prevalence of 0.02%. It is characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, sleep palsy, and sleep fragmentation. Diagnosis: Narcolepsy diagnosis is defined by clinical defaults and analysis of five naps during multiple sleep latency tests. Pathophysiology: Higher prevalence of HLA-DQB1*0602 allele and lower hypocretin-1 levels were demonstrated in patients with narcolepsy and cataplexy. However, the pathophysiology is not completely known, although a few theories are currently under discussion. Recently, authors described different patterns in the alpha T cell receptor locus and higher prevalence of specific tribbles homolog 2 antibodies in the narcoleptic population. Treatment: The treatment must ensure the familial and social integration of the patient. Conclusion: Narcolepsy is an interesting disease, which involves neurology, immunology, sleep medicine, psychiatry, and genetics. Narcoleptic patients have various difficulties in personal, professional and familial scenarios. Although many advances have been made, the best tool is information for physicians and the general population.

Key words
narcolepsy, genetics, immunology, diagnosis and treatment

Clasificación en siicsalud
Artículos originales > Expertos de Iberoamérica >
página   www.siicsalud.com/des/expertocompleto.php/

Especialidades
Principal: Neurología, Salud Mental
Relacionadas: Genética Humana, Inmunología, Medicina Familiar, Medicina Farmacéutica



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Fernando Morgadinho Santos Coelho, 04210-100, Rua Xavier Curado, 351, apto. 204, Ipiranga, Brasil
Bibliografía del artículo
1. Billiard M. Diagnosis of narcolepsy and idiopathic hypersomnia. An update based on the International classification of sleep disorders, 2nd edition. Sleep Med Rev 11(5):377-88, 2007.
2. Littner MR, Kushida C, Wise M, et al. Practice parameters for clinical use of the multiple sleep latency test and the maintenance of wakefulness test. Sleep 28(1):113-21, 2005.
3. Rechtschaffen A, Dement W. Studies on the relation of narcolepsy, cataplexy, and sleep with low voltage random EEG activity. Res Publ Assoc Res Nerv Ment Dis 45:488-505, 1967.
4. Dean RR, Kilduff TS, Dement WC, Grumet FC. Narcolepsy without unique MHC class II antigen association: studies in the canine model. Hum Immunol 25(1):27-35, 1989.
5. Peyron C, Faraco J, Rogers W, et al. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med 6(9):991-7, 2000.
6. Lim AS, Scammell TE. The trouble with Tribbles: do antibodies against TRIB2 cause narcolepsy? Sleep 33(7):857-8, 2010.
7. Hallmayer J, Faraco J, Lin L, et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet 41(6):708-11, 2009.
8. Toyoda H, Tanaka S, Miyagawa T, Honda Y, Tokunaga K, Honda M. Anti-Tribbles homolog 2 autoantibodies in Japanese patients with narcolepsy. Sleep 33(7):875-8, 2010.
9. Coelho FM, Pradella-Hallinan M, Pedrazzoli M, et al. Traditional biomarkers in narcolepsy: experience of a Brazilian sleep centre. Arq Neuropsiquiatr 68(5):712-5, 2010.
10. Aloe F, Alves RC, Araujo JF, et al. [Brazilian guidelines for the treatment of narcolepsy]. Rev Bras Psiquiatr 32(3):305-14, 2010.
11. Coelho FM, Georgsson, H., Murray, J.M. Benefit of repeat multiple latency testing in confirming a possible narcolepsy diagnosis. J Clin Neuroph 28(4):412-4, 2011.
12. Marti I, Valko PO, Khatami R, Bassetti CL, Baumann CR. Multiple sleep latency measures in narcolepsy and behaviourally induced insufficient sleep syndrome. Sleep Med 10(10):1146-50, 2009.
13. Mignot E, Thorsby E. Narcolepsy and the HLA system. N Engl J Med 344(9):692, 2001.
14. Coelho FM, Pradella-Hallinan M, Predazzoli Neto M, Bittencourt LR, Tufik S. Prevalence of the HLA-DQB1*0602 allele in narcolepsy and idiopathic hypersomnia patients seen at a sleep disorders outpatient unit in São Paulo. Rev Bras Psiquiatr 31(1):10-4, 2009.
15. Goel N, Banks S, Mignot E, Dinges DF. DQB1*0602 predicts interindividual differences in physiologic sleep, sleepiness, and fatigue. Neurology 75(17):1509-19, 2010.
16. Lin L, Faraco J, Li R, et al. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 98(3):365-76, 1999.
17. Thannickal TC, Moore RY, Nienhuis R, et al. Reduced number of hypocretin neurons in human narcolepsy. Neuron 27(3):469-74, 2000.
18. Mignot E. A commentary on the neurobiology of the hypocretin/orexin system. Neuropsychopharmacology 25(5 Suppl):S5-13, 2001.
19. Sutcliffe JG, de Lecea L. Novel neurotransmitters for sleep and energy homeostasis. Results Probl Cell Differ 26:239-55, 1999.
20. Nevsimalova S, Vankova J, Sonka K, et al. [Hypocretin (orexin) deficiency in narcolepsy-cataplexy]. Sb Lek 101(4):381-6, 2000.
21. Nishino S. Narcolepsy: pathophysiology and pharmacology. J Clin Psychiatry 68 Suppl 13:9-15, 2007.
22. Dauvilliers Y. [Neurodegenerative, autoimmune and genetic processes of human and animal narcolepsy]. Rev Neurol (Paris) 159(11 Suppl):6S83-7, 2003.
23. Dauvilliers Y, Montplaisir J, Cochen V, et al. Post-H1N1 narcolepsy-cataplexy. Sleep 33(11):1428-30, 2010.
24. Mignot E, Lin L, Rogers W, et al. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet 68(3):686-99, 2001.
25. Broughton R, Valley V, Aguirre M, Roberts J, Suwalski W, Dunham W. Excessive daytime sleepiness and the pathophysiology of narcolepsy-cataplexy: a laboratory perspective. Sleep 9(1 Pt 2):205-15, 1986.
26. Knudsen S, Mikkelsen JD, Bang B, Gammeltoft S, Jennum PJ. Intravenous immunoglobulin treatment and screening for hypocretin neuron-specific autoantibodies in recent onset childhood narcolepsy with cataplexy. Neuropediatrics 41(5):217-22, 2010.
27. Coelho FM, Pradella-Hallinan M, Alves GR, Bittencourt LR, Tufik S. Report of two narcoleptic patients with remission of hypersomnolence following use of prednisone. Arq Neuropsiquiatr 65(2A):336-7, 2007.
28. Coelho FM, Pradella-Hallinan M, Pedrazzoli M, et al. Low CD40L levels and relative lymphopenia in narcoleptic patients. Hum Immunol 72(10):817-20, 2011.
29. Kawashima M, Lin L, Tanaka S, et al. Anti-Tribbles homolog 2 (TRIB2)
autoantibodies in narcolepsy are associated with recent onset of cataplexy. Sleep 33(7):869-74, 2010.
30. Billiard M, Bassetti C, Dauvilliers Y, et al. EFNS guidelines on management of narcolepsy. Eur J Neurol 13(10):1035-48, 2006.
31. Arnulf I, Mignot E. Sodium oxybate for excessive daytime sleepiness in narcolepsy-cataplexy. Sleep 27(7):1242-3, 2004.
 
 
 
 
 
 
 
 
 
 
 
 
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