Artículos de revistas
Brazilian Guidelines For The Diagnosis Of Narcolepsy [diretrizes Brasileiras Para O Diagnóstico Da Narcolepsia]
Registro en:
Revista Brasileira De Psiquiatria. , v. 32, n. 3, p. 294 - 304, 2010.
15164446
10.1590/S1516-44462010005000014
2-s2.0-77958514607
Autor
Aloe F.
Alves R.C.
Araujo J.F.
Azevedo A.
Bacelar A.
Bezerra M.
Bittencourt L.R.A.
Bustamante G.
De Oliveira Cardoso T.A.M.
Eckeli A.L.
Fernandes R.M.F.
Goulart L.
Pradella-Hallinan M.
Hasan R.
Sander H.H.
Pinto Jr. L.R.
Lopes M.C.
Minhoto G.R.
Moraes W.
Moreira G.A.
Pachito D.
Pedrazolli M.
Poyares D.
Prado L.
Rizzo G.
Rodrigues R.N.
Roitman I.
Silva A.B.
Tavares S.M.A.
Institución
Resumen
This manuscript contains the conclusion of the consensus meeting on the diagnosis of narcolepsy based on the review of Medline publications between 1980-2010. Narcolepsy is a chronic disorder with age at onset between the first and second decade of life. Essential narcolepsy symptoms are cataplexy and excessive sleepiness. Cataplexy is defined as sudden, recurrent and reversible attacks of muscle weakness triggered by emotions. Accessory narcolepsy symptoms are hypnagogic hallucinations, sleep paralysis and nocturnal fragmented sleep. The clinical diagnosis according to the International Classification of Sleep Disorders is the presence of excessive sleepiness and cataplexy. A full in-lab polysomnography followed by a multiple sleep latency test is recommended for the confirmation of the diagnosis and co-morbidities. The presence of two sleep-onset REM period naps in the multiple sleep latency test is diagnostic for cataplexy-free narcolepsy. A positive HLA-DQB1*0602 with lower than 110pg/mL level of hypocretin-1 in the cerebrospinal fluid is required for the final diagnosis of cataplexy- and sleep-onset REM period-free narcolepsy. 32 3 294 304 (2005) International Classification of Sleep Disorders, Second Edition: Diagnostic and Coding Manual, , American Academy of Sleep Medicine. Westchester, IL: American Academy of Sleep Medicine Longstreth Jr., W.T., Ton, T.G., Koepsell, T., Gersuk, V.H., Hendrickson, A., Velde, S., Prevalence of narcolepsy in King County, Washington, USA (2009) Sleep Med, 10 (4), pp. 422-426 Longstreth Jr., W.T., Koepsell, T.D., Ton, T.G., Hendrickson, A.F., Van Belle, G., The epidemiology of narcolepsy (2007) Sleep, 30 (1), pp. 13-26 Silber, M.H., Krahn, L.E., Olson, E.J., Pankratz, V.S., The epidemiology of narcolepsy in Olmsted County, Minnesota: A population-based study (2002) Sleep, 25 (2), pp. 197-202 Hublin, C., Kaprio, J., Partinen, M., Koskenvuo, M., Heikkila, K., Koskimies, S., Guillemmault, C., The prevalence of narcolepsy: An epidemiological study of the Finnish twin cohort (1994) Annals of Neurology, 35 (6), pp. 709-716. , DOI 10.1002/ana.410350612 Wing, Y.K., Li, R.H., Lam, C.W., Ho, C.K., Fong, S.Y., Leung, T., The prevalence of narcolepsy among Chinese in Hong Kong (2002) Ann Neurol, 51 (5), pp. 578-584 Mignot, E., Genetic and familial aspects of narcolepsy (1998) Neurology, 50 (2 SUPPL. 1), pp. S16-22 Mignot, E., Lin, L., Rogers, W., Honda, Y., Qiu, X., Lin, X., Okun, M., Risch, N., Complex HLA-DR and -DQ interactions confer risk of narcolepsycataplexy in three ethnic groups (2001) Am J Hum Genet, 68 (3), pp. 686-699 Pelin, Z., Guilleminault, C., Risch, N., Grumet, F.C., Mignot, E., HLA-DQB1*0602 homozygosity increases relative risk for narcolepsy but not disease severity in two ethnic groups (1998) Tissue Antigens, 51 (1), pp. 96-100. , US Modafinil in Narcolepsy Multicenter Study Group Mignot, E., Kimura, A., Latlermann, A., Lin, X., Yasunaga, S., Mueller-Eckhardt, G., Rattazzi, C., Underbill, P., Extensive HLA class II studies in 58 non-DRB 1*15 (DR2) narcoleptic patients with cataplexy (1997) Tissue Antigens, 49 (4), pp. 329-341 Ellis, M.C., Hetisimer, A.H., Ruddy, D.A., Hansen, S.L., Kronmal, G.S., McClelland, E., Quintana, L., Mignot, E., HLA class II haplotype and sequence analysis support a role for DQ in narcolepsy (1997) Immunogenetics, 46 (5), pp. 410-417 Mignot, E., Lin, X., Arrigoni, J., Macaubas, C., Olive, F., Hallmayer, J., Underhill, P., Grumet, F.C., DQB1*0602 and DQA1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and black Americans (1994) Sleep, 17 (8 SUPPL.), pp. S60-7 Mignot, E., Hayduk, R., Black, J., Grumet, F.C., Guilleminault, C., HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patients (1997) Sleep, 20 (11), pp. 1012-1020 Morgun, A., Gonçalves-Primo, A., Shulzhenko, N., Rampim, G.F., Mine, K.L., Gerbase-DeLima, M., HLA-DQB1 and -DRB1 Alleles, Cytokine Polymorphismis and KIR Gene Frequencies in a Population (Caucasian) from South East Brazil (2004) Hum Immunol, 65 (9), pp. 879-882 Temin, J., Marques, G.D., Morgun, A., Shulzhenko, N., Rampim, G.F., Gerbase-de Lima, M., HLA-DQB1 and -DRB1 Alleles and Cytokine Polymorphismis in a Mulatto population from South East Brazil (2004) Hum Immunol, 65 (9), pp. 882-886 Miyagawa, T., Honda, M., Kawashima, M., Shimada, M., Tanaka, S., Honda, Y., Tokunaga, K., Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype (2010) J Hum Genet, 55 (1), pp. 63-65 Hallmayer, J., Faraco, J., Lin, L., Hesselson, S., Winkelmann, J., Kawashima, M., Mayer, G., Mignot, E., Narcolepsy is strongly associated with the T-cell receptor alpha locus (2009) Nat Genet, 41 (6), pp. 708-711 Dauvilliers, Y., Neidhart, E., Lecendreux, M., Billiard, M., Tafti, M., MAO-A and COMT polymorphisms and gene effects in narcolepsy (2001) Molecular Psychiatry, 6 (4), pp. 367-372. , DOI 10.1038/sj.mp.4000911 Dauvilliers, Y., Neidhart, E., Billiard, M., Tafti, M., Sexual dimorphism of the catechol-O-methyltransferase gene in narcolepsy is associated with response to modafinil (2002) Pharmacogenomics Journal, 2 (1), pp. 65-68. , DOI 10.1038/sj.tpj.6500088 Dauvilliers, Y., Arnulf, I., Narcolepsie avec cataplexie (2008) Revue Neurologique, 164 (8-9), pp. 634-645 Dauvilliers, Y., Arnulf, I., Mignot, E., Narcolepy with cataplexy (2007) Lancet, 369 (9560), pp. 499-511 Nishino, S., Clinical and neurobiological aspects of narcolepsy (2007) Sleep Med, 8 (4), pp. 373-399 Nishino, S., Narcolepsy (2006) Sleep Med Clin, 1, pp. 47-61 Dauvilliers, Y., Billiard, M., Montplaisir, J., Clinical aspects and pathophysiology of narcolepsy (2003) Clin Neurophysiol, 114 (11), pp. 2000-2017 Thannickal, T.C., Nienhuis, R., Siegel, J.M., Localized loss of hypocretin (orexin) cells in narcolepsy without cataplexy (2009) Sleep, 32 (8), pp. 993-998 Overeem, S., Black III, J.L., Lammers, G.J., Narcolepsy: Immunological aspects (2008) Sleep Med Rev, 12 (2), pp. 95-107 Boehmer, L.N., Wu, M.-F., John, J., Siegel, J.M., Treatment with immunosuppressive and anti-inflammatory agents delays onset of canine genetic narcolepsy and reduces symptom severity (2004) Experimental Neurology, 188 (2), pp. 292-299. , DOI 10.1016/j.expneurol.2004.04.006, PII S0014488604001396 Vignatelli, L., D'Alessandro, R., Mosconi, P., Ferini-Strambi, L., Guidolin, L., De Vincentiis, A., Plazzi, G., Health-related quality of life in Italian patients with narcolepsy: The SF-36 health survey (2004) Sleep Med, 5 (5), pp. 467-475. , GINSEN (Gruppo Italiano Narcolessia-Studio Epidemiologico Nazionale) Rieger, M., Mayer, G., Gauggel, S., Attention deficits in patients with narcolepsy (2003) Sleep, 26 (1), pp. 36-43 Bayon, V., Damien Léger, D., Philip, P., Socio-professional handicap and accidental risk in patients with hypersomnias of central origin (2009) Sleep Med, 13 (6), pp. 421-426 Aldrich, M.S., Automobile accidents in patient with sleep disorders (1989) Sleep, 12 (6), pp. 487-494 Fortuyn, H.A., Lappenschaar, M.A., Furer, J.W., Hodiamont, P.P., Rijnders, C.A., Renier, W.O., Buitelaar, J.K., Overeem, S., Anxiety and mood disorders in narcolepsy: A case-control study (2010) Gen Hosp Psychiatry, 32 (1), pp. 49-56 Bonakis, A., Howard, R.S., Williams, A., Bonakis, A., Howard, R.S., Williams, A., Narcolepsy presenting as REM sleep behaviour disorder (2008) Clinical Neurol Neurosurg, 110 (5), pp. 518-520 Dauvilliers, Y., Rompre, S., Gagnon, J.-F., Vendette, M., Petit, D., Montplaisir, J., REM sleep characteristics in narcolepsy and REM sleep behavior disorder (2007) Sleep, 30 (7), pp. 844-849 Mattarozzi, K., Bellucci, C., Campi, C., Cipolli, C., Ferri, R., Franceschini, C., Mazzetti, M., Plazzi, G., Clinical, behavioural and polysomnographic correlates of cataplexy in patients with narcolepsy/cataplexy (2008) Sleep Med, 9 (4), pp. 425-433 Nevsimalova, S., Prihodova, I., Kemlink, D., Linm, L., Mignot, E., REM behavior disorder (RBD) can be one of the first symptoms of childhood narcolepsy (2007) Sleep Med, 8 (7-8), pp. 784-786 Nightingale, S., Orgill, J.C., Ebrahim, I.O., De Lacy, S.F., Agrawal, S., Williams, A.J., The association between narcolepsy and REM behavior disorder (RBD) (2005) Sleep Med, 6 (3), pp. 253-258 Fortuyn, H.A., Swinkels, S., Buitelaar, J., Renier, W.O., Furer, J.W., Rijnders, C.A., Hodiamont, P.P., Overeem, S., High prevalence of eating disorders in narcolepsy with cataplexy: A case-control study (2008) Sleep, 31 (3), pp. 335-341 Dahmen, N., Bierbrauer, J., Kasten, M., Increased prevalence of obesity in narcoleptic patients and relatives (2001) Eur Arch Psychiatry Clin Neurosci, 251 (2), pp. 85-89 Chabas, D., Foulon, C., Gonzalez, J., Nasr, M., Lyon-Caen, O., Willer, J.C., Derenne, J.P., Arnulf, I., Eating disorder and metabolism in narcoleptic patients (2007) Sleep, 30 (10), pp. 1267-1273 Kotagal, S., Krahn, L.E., Slocumb, N., A putative link between childhood narcolepsy and obesity (2004) Sleep Med, 5 (2), pp. 147-150 Sansa, G., Iranzo, A., Santamaria, J., Obstructive sleep apnea in narcolepsy (2010) J Sleep Med, 11 (1), pp. 93-95 Dahmen, N., Kasten, M., Wieczorek, S., Gencik, M., Epplen, J.T., Ullrich B, B., Increased frequency of migraine in narcoleptic patients: A confirmatory study (2003) Cephalalgia, 23 (1), pp. 14-19 Dahmen, N., Querings, K., Grun, B., Bierbrauer, J., Increased frequency of migraine in narcoleptic patients (1999) Neurology, 52 (6), pp. 1291-1293 Nishino, S., Kanbayashi, T., Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system (2005) Sleep Med Rev, 9 (4), pp. 269-310 Billiard, M., Diagnosis of narcolepsy and idiopathic hypersomnia. An update based on the International Classification of Sleep Disorders (2007) Sleep Med Rev, 11 (5), pp. 377-388 Sasai, T., Inoue, Y., Komada, Y., Sugiura, T., Matsushima, E., Comparison of clinical characteristics among narcolepsy with and without cataplexy and idiopathic hypersomnia without long sleep time, focusing on HLA-DRB1*1501/DQB1*0602 finding (2009) Sleep Med, 10 (9), pp. 961-966 Arnulf, I., Zeitzer, J.M., File, J., Farber, N., Mignot, E., Kleine-Levin syndrome: A systematic review of 186 cases in the literature (2005) Brain, 128 (PART 12), pp. 2763-2776 Doose, H., Myoclonic-astatic epilepsy in early childhood (1992) Epileptic Syndromes in Infancy, Childhood and Adolescence, pp. 103-114. , Roger J, Bureau M, Dravet C, editors. 2 ed. London: John Libbey Zeman, A., Douglas, N., Aylward, R., Narcolepsy mistaken for epilepsy (2001) BMJ, 322 (7280), pp. 216-218 Zeman, A., Britton, T., Neil Douglas, D., Hansen, A., Hicks, J., Robin, H., Narcolepsy and excessive daytime sleepiness (2004) BMJ, 329 (7468), pp. 724-728 Baumann, C.R., Bassetti, C.L., Valko, P.O., Haybaeck, J., Morten Keller, M., Clark, E., Stocker, R., Scammell, T.E., Loss of hypocretin (Orexin) neurons with traumatic brain injury (2009) Ann Neurol, 66 (4), pp. 555-559 Droogleever-Fortuyn, H.A., Psychotic symptoms in narcolepsy: Phenomenology and a comparison with schizophrenia (2009) Gen Hospital Psychiatr, 31, pp. 146-154 Ohayon, M.M., Priest, R.G., Caulet, M., Guilleminault, C., Hypnagogic and hypnopompic hallucinations: Pathologic phenomenon? (1996) Br J Psychiatry, 169 (4), pp. 459-467 Ohayon, M.M., Zulley, J., Guilleminault, C., Smirne, S., Prevalence and pathologic association of sleep paralysis in the general population (1999) Neurology, 52 (6), pp. 1194-1200 D'Cruz, O., Vaughn, B., Gold, S., Symptomatic cataplexy in pontomedullary lesions (1994) Neurology, 44 (11), pp. 2189-2191 Iber, C., Ancoli-Israel, S., Chesson, A.L., Quan, S.F., (2007) The AASM Manual for the Scoring of Sleep and Associated Events: Rules, Terminology, and Technical Specifications, , Westchester, Illinois: American Academy of Sleep Medicine Kushida, C.A., Littner, M.R., Morgenthaler, T., Alessi, C.A., Bailey, D., Coleman Jr., J., Friedman, L., Wise, M., The indications for polysomnography and related proce dures (2005) Sleep, 28 (4), pp. 499-521 Practice parameters for clinical use of the multiple sleep latency test and the maintenance of wakefulness test (2005) Sleep, 28, pp. 113-121. , Standards of Practice Committee of the American Academy of Sleep Medicine Broughton, R., Dunham, W., Newman, J., Lutley, K., Duschesne, P., Rivers, M., Ambulatory 24 hour sleep-wake monitoring in narcolepsy -cataplexy compared with matched control subjects (1988) Electroencephalogr Clin Neurophysiol, 70 (6), pp. 473-481 Montplaisir, J., Billiard, M., Takahashi, S., Bell, I.R., Guilleminault, C., Dement, W.C., Twenty-four-hour recording in REM-narcoleptics with special reference to nocturnal sleep disruption (1978) Biol Psychiatry, 13 (1), pp. 73-89 Montplaisir, J., Godbout, R., Nocturnal sleep of narcoleptic patients: Revisited (1986) Sleep, 9 (1 PART 2), pp. 159-161 Vankova, J., Nevsimalova, S., Sonka, K., Spackova, N., Svejdova-Blazejova, K., Increased REM density in narcolepsy-cataplexy and the polysymptomatic form of idiopathic hypersomnia (2001) Sleep, 24 (6), pp. 707-711 Dauvilliers, Y., Pennestri, M.H., Petit, D., Dhang-Vu, T., Lavigne, G., Montplaisir, J., Periodic leg movements during sleep and wakefulness in Narcolepsy J (2007) Sleep Res, 16 (3), pp. 333-339 Arand, D., Bonnet, M., Hurwitz, T., Mitler, M., Rosa, R., Sangel, B., The Clinical Use of the MSLT and MWT (2005) Sleep, 28 (1), pp. 123-144 Bonnet, M.H., ACNS clinical controversy: MSLT and MWT have limited clinical utility (2006) J Clin Neurophysiol, 23 (1), pp. 50-58 Wise, M.S., Objective Measures of Sleepiness and Wakefulness: Application to the Real World? (2006) J Clin Neurophysiol, 23 (1), pp. 39-49 Mitler, M.M., Gujavarty, K.S., Browman, C.P., Maintenance of wake fulness test: A polysomnographic technique for evaluation treat ment efficacy in patients with excessive somnolence (1982) Electroen Cephalogr Clin Neurophysiol, 53 (6), pp. 658-661 Doghramji, K., Mitler, M., Sangal, B., Shapiro, Taylor, S., Shapiro, C., Taylor, S., Youakim, J.M., A normative study of the maintenance of wakefulness test (MWT) (1997) Electroencephalogr Clin Neurophysiol, 103 (5), pp. 554-562 Johns, M.W., A new method for measuring daytime sleepiness: The Epworth sleepiness scale (1991) Sleep, 14 (6), pp. 540-545 Johns, M.W., Sleepiness in different situations measured by the Epworth sleepiness scale (1994) Sleep, 17 (8), pp. 703-710 Johns, M.W., Sensitivity and specificity of the multiple sleep latency test (MSLT), the maintenance of wakefulness test and the Epworth sleepiness scale: Failure of the MSLT as a gold standard (2000) J Sleep Res, 9 (1), pp. 5-11 Lin, L., Hungs, M., Mignot, E., Narcolepsy and the HLA region (2001) J Neuroimmunol, 117 (1-2), pp. 9-20 Bougin, P., Zeitzer, J.M., Mignot, E., CSF hypocretin-1 assessment in sleep and neurological disorders (2008) Lancet Neurol, 7 (7), pp. 649-662 De Lecea, L., Kilduff, T.S., Peyron, C., Gao, X., Foye, P.E., Danielson, P.E., Fukuhara, C., Sutcliffe, J.G., The hypocretins: Hypothalamus-specific peptides with neuroexcitatory activity (1998) Proc Natl Acad Sci USA, 95 (1), pp. 322-327 Sakurai, T., Amemiya, A., Ishii, M., Matsuzaki, I., Chemelli, R.M., Tanaka, H., Williams, S.C., Yanagisawa, M., Orexins and orexin receptors: A family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior (1998) Cell, 92 (4), pp. 573-585 Fronczek, R., Bauman, C.R., Lammers, G.J., Bassetti, C.L., Overeem, S., Hypocretin/orexin disturbances in neurological disorders (2009) Sleep Med Rev, 13 (1), pp. 9-22 Shchenko, D., Murillo-Rodriguez, E., Lin, L., Xu, M., Hallett, L., Nishino, S., Lin, L., Shiromani, P.J., Relationship between CSF hypocretin levels and hypocretin neuronal loss (2003) Exp Neurol, 184 (2), pp. 1010-1016 Mignot, E., Lammers, G.J., Ripley, B., Okun, M., Nevsimalova, S., Overeem, S., Overeem, S., Nishino, S., The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias (2002) Arch Neurol, 59 (10), pp. 1553-1562 Dauvilliers, Y., Baumann, C.R., Carlander, B., Bischof, M., Blatter, T., Lecendreux, M., Maly, F., Bassetti, C.L., CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions (2003) J Neurol Neurosurg Psychiatry, 74 (12), pp. 1667-1673 Baumann, C.R., Bassetti, C.L., Hypocretins (orexins) and sleep-wake disorders (2005) Lancet Neurol, 4 (10), pp. 673-682