Brazilian guidelines for the diagnosis of narcolepsy;Diretrizes brasileiras para o diagnóstico da narcolepsia

Revista Brasileira de Psiquiatria

Volumn 32, Issue 3, 2010, Pages 294-304

  Alóe, Flávio ^a   Alves, Rosana Cardoso ^a   Araújo, John F ^b   Azevedo, Alexandre ^a   Bacelar, Andrea ^c   Bezerra, Márcio ^d   Bittencourt, Lia Rita Azeredo ^e   Bustamante, Guilherme ^a   De Oliveira Cardoso, Tânia Aparecida Marchiori ^f   Eckeli, Alan L ^a   Fernandes, Regina Maria França ^a   Goulart, Leonardo ^g   Pradella Hallinan, Márcia ^e   Hasan, Rosa ^a   Sander, Heidi Haueisen ^a   Pinto Jr , Luciano Ribeiro ^e   Lopes, Maria Cecília ^a   Minhoto, Gisele Richter ^h   Moraes, Walter ^e   Moreira, Gustavo Antônio ^e   Pachito, Daniela ^a   Pedrazolli, Mário ^a   Poyares, Dalva ^e   Prado, Lucila ^e   Rizzo, Geraldo ⁱ   Rodrigues, R Nonato ^j   Roitman, Israel ^g   Silva, Ademir Baptista ^e   Tavares, Stella Márcia Azevedo ^a,g   more..

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO NORTE   (Brazil)

^c Carlos Bacelar Clínica   (Brazil)

^d Clínica Rio Sono   (Brazil)

^e FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^f UNIVERSITY OF CAMPINAS   (Brazil)

^g HOSPITAL ISRAELITA ALBERT EINSTEIN   (Brazil)

^h PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

ⁱ HOSPITAL MÃE DE DEUS   (Brazil)

^j HOSPITAL UNIVERSITÁRIO DE BRASÍLIA   (Brazil)

more..

Author keywords

Antidepressants; Cataplexy; Excessive sleepness; Narcolepsy; Stimulants

Indexed keywords

CATECHOL METHYLTRANSFERASE; DOPAMINE; HLA DQB1 ANTIGEN; MODAFINIL; NORADRENALIN; OREXIN A; OREXIN B;

CATAPLEXY; CLINICAL FEATURE; COMORBIDITY; CONSENSUS; DISEASE CLASSIFICATION; HUMAN; HYPNAGOGIC HALLUCINATION; HYPOTHALAMUS; NARCOLEPSY; ONSET AGE; PARASOMNIA; POLYSOMNOGRAPHY; PRACTICE GUIDELINE; PROTEIN CEREBROSPINAL FLUID LEVEL; REM SLEEP; REVIEW; SLEEP; SOMNOLENCE; SYMPTOM;

EID: 77958514607     PISSN: 15164446     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1516-44462010005000014     Document Type: Review

References (81)

1. American Academy of Sleep Medicine. International classification of sleep disorders, second edition: diagnostic and coding manual. Westchester, IL: American Academy of Sleep Medicine; 2005.
2. Longstreth WT Jr, Ton TG, Koepsell T, Gersuk VH, Hendrickson A, Velde S. Prevalence of narcolepsy in King County, Washington, USA. Sleep Med. 2009;10(4):422-6.
3. Longstreth WT Jr, Koepsell TD, Ton TG, Hendrickson AF, van Belle G. The epidemiology of narcolepsy. Sleep. 2007;30(1):13-26.
4. Silber MH, Krahn LE, Olson EJ, Pankratz VS. The epidemiology of narcolepsy in Olmsted County, Minnesota: a population-based study. Sleep. 2002;25(2):197-202.
5. Hublin C, Kaprio J, Partinen M, Koskenvuo M, Heikkila K, Koskimies S, Guilleminault C.The prevalence of narcolepsy: an epidemiological study of the Finnish Twin Cohort. Ann Neurol. 1994;35(6):709-16. (Pubitemid 24172171)
6. Wing YK, Li RH, Lam CW, Ho CK, Fong SY, Leung T. The prevalence of narcolepsy among Chinese in Hong Kong. Ann Neurol. 2002;51(5):578-84.
7. Mignot E. Genetic and familial aspects of narcolepsy. Neurology. 1998;50(2Suppl 1):S16-22.
8. Mignot E, Lin L, Rogers W, Honda Y, Qiu X, Lin X, Okun M, Hohjoh H, Miki T, Hsu S, Leffell M, Grumet F, Fernandez-Vina M, Honda M, Risch N. Complex HLA-DR and -DQ interactions confer risk of narcolepsycataplexy in three ethnic groups. Am J Hum Genet. 2001;68(3):686-99.
9. Pelin Z, Guilleminault C, Risch N, Grumet FC, Mignot E. HLA-DQB1*0602 homozygosity increases relative risk for narcolepsy but not disease severity in two ethnic groups. US Modafinil in Narcolepsy Multicenter Study Group. Tissue Antigens. 1998;51(1):96-100.
10. Mignot E, Kimura A, Lattermann A, Lin X, Yasunaga S, Mueller-Eckhardt G, Rattazzi C, Lin L, Guilleminault C, Grumet FC, Mayer G, Dement WC, Underhill P. Extensive HLA class II studies in 58 non-DRB1*15 (DR2) narcoleptic patients with cataplexy. Tissue Antigens. 1997;49(4):329-41. (Pubitemid 27174284)
11. Ellis MC, Hetisimer AH, Ruddy DA, Hansen SL, Kronmal GS, McClelland E, Quintana L, Drayna DT, Aldrich MS, Mignot E. HLA class II haplotype and sequence analysis support a role for DQ in narcolepsy. Immunogenetics. 1997;46(5):410-7.
12. Mignot E, Lin X, Arrigoni J, Macaubas C, Olive F, Hallmayer J, Underhill P, Guilleminault C, Dement WC, Grumet FC. DQB1*0602 and DQA1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and black Americans. Sleep. 1994;17(8 Suppl):S60-7.
13. Mignot E, Hayduk R, Black J, Grumet FC, Guilleminault C. HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patients. Sleep. 1997;20(11):1012-20.
14. Morgun A, Gonçalves-Primo A, Shulzhenko N, Rampim GF, Mine KL, Gerbase-DeLima M. HLA-DQB1 and -DRB1 Alleles, Cytokine Polymorphismis and KIR Gene Frequencies in a Population (Caucasian) from South East Brazil. Hum Immunol. 2004;65(9):879-82.
15. Temin J, Marques GD, Morgun A, Shulzhenko N, Rampim GF, Gerbase-de Lima M. HLA-DQB1 and -DRB1 Alleles and Cytokine Polymorphismis in a Mulatto population from South East Brazil. Hum Immunol. 2004;65(9):882-6.
16. 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. J Hum Genet. 2010;55(1):63-5.
17. Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SC, Honda Y, Honda M, Högl B, Longstreth WT Jr, Montplaisir J, Kemlink D, Einen M, Chen J, Musone SL, Akana M, Miyagawa T, Duan J, Desautels A, Erhardt C, Hesla PE, Poli F, Frauscher B, Jeong JH, Lee SP, Ton TG, Kvale M, Kolesar L, Dobrovolná M, Nepom GT, Salomon D, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Young T, Peppard P, Tokunaga K, Kwok PY, Risch N, Mignot E. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet. 2009;41(6):708-11.
18. Dauvilliers Y, Neidhart E, Lecendreux M, Billiard M, Tafti M. MAO-A and COMT polymorphisms and gene effects in narcolepsy. Mol Psychiatry. 2001;6(4):367-72. (Pubitemid 32566084)
19. Dauvilliers Y, Neidhart E, Billiard M, Tafti M: Sexual dimorphismof the catechol-O-methyltransferase gene in narcolepsy is associated with response to modafinil. Pharmacogenomics J. 2002,2(1):65-8. (Pubitemid 34982205)
20. Dauvilliers Y, Arnulf I. Narcolepsie avec cataplexie. Revue Neurologique. 2008;164(8-9):634-45.
21. Dauvilliers Y, Arnulf I, Mignot E. Narcolepy with cataplexy. Lancet. 2007;369(9560):499-511.
22. Nishino S. Clinical and neurobiological aspects of narcolepsy. Sleep Med. 2007;8(4):373-99.
23. Nishino S. Narcolepsy. Sleep Med Clin. 2006;1:47-61.
24. Dauvilliers Y, Billiard M, Montplaisir J. Clinical aspects and pathophysiology of narcolepsy. Clin Neurophysiol. 2003;114(11):2000-17.
25. Thannickal TC, Nienhuis R, Siegel JM. Localized loss of hypocretin (orexin) cells in narcolepsy without cataplexy. Sleep. 2009;32(8):993-8.
26. Overeem S, Black JL 3rd, Lammers GJ. Narcolepsy: immunological aspects. Sleep Med Rev. 2008;12(2):95-107.
27. Boehmer LN, Wu MF, John J, Siegel JM. Treatment with immunosuppressive and anti-inflammatory agents delays onset of canine genetic narcolepsy and reduces symptom severity. Expl Neurol. 2004;188(2):292-9. (Pubitemid 38891590)
28. Vignatelli L, D'Alessandro R, Mosconi P, Ferini-Strambi L, Guidolin L, De Vincentiis A, Plazzi G; GINSEN (Gruppo Italiano Narcolessia-Studio Epidemiologico Nazionale). Health-related quality of life in Italian patients with narcolepsy: the SF-36 health survey. Sleep Med. 2004:5(5):467-75.
29. Rieger M, Mayer G, Gauggel S. Attention deficits in patients with narcolepsy. Sleep. 2003;26(1):36-43.
30. Bayon V, Damien Léger D, Philip P. Socio-professional handicap and accidental risk in patients with hypersomnias of central origin. Sleep Med. 2009;13(6):421-6.
31. Aldrich MS. Automobile accidents in patient with sleep disorders. Sleep. 1989;12(6):487-94.
32. Fortuyn HA, Lappenschaar MA, Furer JW, Hodiamont PP, Rijnders CA, Renier WO, Buitelaar JK, Overeem S. Anxiety and mood disorders in narcolepsy: a case-control study. Gen Hosp Psychiatry. 2010;32(1):49-56.
33. Bonakis A, Howard RS, Williams A, Bonakis A, Howard RS, Williams A. Narcolepsy presenting as REM sleep behaviour disorder. Clinical Neurol Neurosurg. 2008;110(5):518-20.
34. Dauvilliers Y, Rompré S. REM Sleep Characteristics in narcolepsy and REM Sleep Behavior Disorder. Sleep. 2007;30(7):844-9. (Pubitemid 47041387)
35. Mattarozzi K, Bellucci C, Campi C, Cipolli C, Ferri R, Franceschini C, Mazzetti M, Russo PM, Vandi S, Vignatelli L, Plazzi G. Clinical, behavioural and polysomnographic correlates of cataplexy in patients with narcolepsy/cataplexy. Sleep Med. 2008;9(4):425-33.
36. Nevsimalova S, Prihodova I, Kemlink D, Linm L, Mignot E. REM behavior disorder (RBD) can be one of the first symptoms of childhood narcolepsy. Sleep Med. 2007;8(7-8):784-6.
37. Nightingale S, Orgill JC, Ebrahim IO, de Lacy SF, Agrawal S, Williams AJ. The association between narcolepsy and REM behavior disorder (RBD). Sleep Med. 2005;6(3):253-8.
38. Fortuyn HA, Swinkels S, Buitelaar J, Renier WO, Furer JW, Rijnders CA, Hodiamont PP, Overeem S. High prevalence of eating disorders in narcolepsy with cataplexy: a case-control study. Sleep. 2008;31(3):335-41.
39. Dahmen N, Bierbrauer J, Kasten M. Increased prevalence of obesity in narcoleptic patients and relatives. Eur Arch Psychiatry Clin Neurosci. 2001;251(2):85-9.
40. Chabas D, Foulon C, Gonzalez J, Nasr M, Lyon-Caen O, Willer JC, Derenne JP, Arnulf I. Eating disorder and metabolism in narcoleptic patients. Sleep. 2007;30(10):1267-73.
41. Kotagal S, Krahn LE, Slocumb N. A putative link between childhood narcolepsy and obesity. Sleep Med. 2004;5(2):147-50.
42. Sansa G, Iranzo A, Santamaria J. Obstructive sleep apnea in narcolepsy. J Sleep Med. 2010;11(1):93-5.
43. Dahmen N, Kasten M, Wieczorek S, Gencik M, Epplen JT, B Ullrich B. Increased frequency of migraine in narcoleptic patients: a confirmatory study. Cephalalgia. 2003;23(1):14-9.
44. Dahmen N, Querings K, Grun B, Bierbrauer J. Increased frequency of migraine in narcoleptic patients. Neurology. 1999;52(6):1291-3.
45. Nishino S, Kanbayashi T. Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system. Sleep Med Rev. 2005;9(4):269-310.
46. Billiard M. Diagnosis of narcolepsy and idiopathic hypersomnia. An update based on the International Classification of Sleep Disorders. Sleep Med Rev. 2007;11(5):377-88.
47. 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. Sleep Med. 2009;10(9):961-6.
48. Arnulf I, Zeitzer JM, File J, Farber N, Mignot E. Kleine-Levin syndrome: a systematic review of 186 cases in the literature. Brain. 2005;128(Pt 12):2763-76.
49. Doose H. Myoclonic-astatic epilepsy in early childhood. In: Roger J, Bureau M, Dravet C, editors. Epileptic Syndromes in infancy, childhood and adolescence. 2 ed. London: John Libbey; 1992. p.103-14.
50. Zeman A, Douglas N, Aylward R. Narcolepsy mistaken for epilepsy. BMJ. 2001;322(7280);216-8.
51. Zeman A, Britton T, Neil Douglas D, Hansen A, Hicks J, Robin H. Narcolepsy and excessive daytime sleepiness. BMJ. 2004;329(7468):724-8.
52. Baumann CR, Bassetti CL, Valko PO, Haybaeck J, Morten Keller M, Clark E, Stocker R, Markus Tolnay M, Scammell TE. Loss of hypocretin (Orexin) neurons with traumatic brain injury. Ann Neurol. 2009;66(4):555-9.
53. Droogleever-Fortuyn HA, et al. Psychotic symptoms in narcolepsy: phenomenology and a comparison with schizophrenia. Gen Hospital Psychiatr. 2009;31:146-54.
54. Ohayon MM, Priest RG, Caulet M, Guilleminault C. Hypnagogic and hypnopompic hallucinations: pathologic phenomenon? Br J Psychiatry. 1996;169(4):459-67
55. Ohayon MM, Zulley J, Guilleminault C, Smirne S. Prevalence and pathologic association of sleep paralysis in the general population. Neurology. 1999;52(6):1194-200.
56. D'Cruz O, Vaughn B, Gold S. Symptomatic cataplexy in pontomedullary lesions. Neurology. 1994;44(11):2189-91.
57. Iber C, Ancoli-Israel S, Chesson AL, Quan SF. The AASM manual for the scoring of sleep and associated events: rules, terminology, and technical specifications. Westchester, Illinois: American Academy of Sleep Medicine; 2007.
58. Kushida CA, Littner MR, Morgenthaler T, Alessi CA, Bailey D, Coleman J Jr, Friedman L, Hirshkowitz M, Kapen S, Kramer M, Lee-Chiong T, Loube DL, Owens J, Pancer JP, Wise M. The indications for polysomnography and related proce dures. Sleep. 2005;28(4):499-521.
59. Standards of Practice Committee of the American Academy of Sleep Medicine. Practice parameters for clinical use of the multiple sleep latency test and the maintenance of wakefulness test. Sleep. 2005;28:113-21.
60. 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. Electroencephalogr Clin Neurophysiol. 1988;70(6):473-81.
61. Montplaisir J, Billiard M, Takahashi S, Bell IR, Guilleminault C, Dement WC. Twenty-four-hour recording in REM-narcoleptics with special reference to nocturnal sleep disruption. Biol Psychiatry. 1978;13(1):73-89.
62. Montplaisir J, Godbout R. Nocturnal sleep of narcoleptic patients: revisited. Sleep. 1986;9(1 Pt 2):159-61.
63. Vankova J, Nevsimalova S, Sonka K, Spackova N, Svejdova- Blazejova K. Increased REM density in narcolepsy-cataplexy and the polysymptomatic form of idiopathic hypersomnia. Sleep. 2001;24(6):707-11.
64. Dauvilliers Y, Pennestri MH, Petit D, Dhang-Vu T, Lavigne G, Montplaisir J. Periodic leg movements during sleep and wakefulness in Narcolepsy J. Sleep Res. 2007;16(3):333-9.
65. Arand D, Bonnet M, Hurwitz T, Mitler M, Rosa R, Sangel B. The Clinical Use of the MSLT and MWT. Sleep. 2005;28(1):123-44.
66. Bonnet MH. ACNS clinical controversy: MSLT and MWT have limited clinical utility. J Clin Neurophysiol. 2006;23(1):50-8.
67. Wise MS. Objective Measures of Sleepiness and Wakefulness: Application to the Real World? J Clin Neurophysiol. 2006;23(1):39-49.
68. Mitler MM, Gujavarty KS, Browman CP. Maintenance of wake fulness test: a polysomnographic technique for evaluation treat ment efficacy in patients with excessive somnolence. Electroen cephalogr Clin Neurophysiol. 1982;53(6):658-61.
69. Doghramji K, Mitler M, Sangal B, Shapiro, Taylor S. Shapiro C, Taylor S, Walsleben J, Belisle C, Erman MK, Hayduk R, Hosn R, O'Malley EB, Sangal JM, Schutte SL, Youakim JM. A normative study of the maintenance of wakefulness test (MWT). Electroencephalogr Clin Neurophysiol. 1997;103(5):554-62.
70. Johns MW. A new method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep. 1991;14(6):540-5.
71. Johns MW. Sleepiness in different situations measured by the Epworth sleepiness scale. Sleep. 1994;17(8):703-10.
72. Johns MW. 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. J Sleep Res. 2000;9(1):5-11.
73. Lin L, Hungs M, Mignot E. Narcolepsy and the HLA region. J Neuroimmunol. 2001;117(1-2):9-20.
74. Bougin P, Zeitzer JM, Mignot E. CSF hypocretin-1 assessment in sleep and neurological disorders. Lancet Neurol. 2008;7(7):649-62.
75. de Lecea L, Kilduff TS, Peyron C, Gao X, Foye PE, Danielson PE, Fukuhara C, Battenberg EL, Gautvik VT, Bartlett FS 2nd, Frankel WN, van den Pol AN, Bloom FE, Gautvik KM, Sutcliffe JG. The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. Proc Natl Acad Sci USA. 1998;95(1):322-7.
76. Sakurai T, Amemiya A, Ishii M, Matsuzaki I, Chemelli RM, Tanaka H, Williams SC, Richarson JA, Kozlowski GP, Wilson S, Arch JR, Buckingham RE, Haynes AC, Carr SA, Annan RS, McNulty DE, Liu WS, Terrett JA, Elshourbagy NA, Bergsma DJ, Yanagisawa M. Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell. 1998;92(4):573-85.
77. Fronczek R, Bauman CR, Lammers GJ, Bassetti CL, Overeem S. Hypocretin/orexin disturbances in neurological disorders. Sleep Med Rev. 2009;13(1):9-22.
78. Shchenko D, Murillo-Rodriguez E, Lin L, Xu M, Hallett L, Nishino S, Lin L, Xu M, Hallett L, Nishino S, Mignot E, Shiromani PJ. Relationship between CSF hypocretin levels and hypocretin neuronal loss. Exp Neurol. 2003;184(2):1010-6.
79. Mignot E, Lammers GJ, Ripley B, Okun M, Nevsimalova S, Overeem S, Overeem S, Vankova J, Black J, Harsh J, Bassetti C, Schrader H, Nishino S. The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Arch Neurol. 2002;59(10):1553-62.
80. Dauvilliers Y, Baumann CR, Carlander B, Bischof M, Blatter T, Lecendreux M, Maly F, Besset A, Touchon J, Billiard M, Tafti M, Bassetti CL. CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. J Neurol Neurosurg Psychiatry. 2003;74(12):1667-73.
81. Baumann CR, Bassetti CL. Hypocretins (orexins) and sleep-wake disorders. Lancet Neurol. 2005;4(10):673-82.