Challenges in diagnosing narcolepsy without cataplexy: A consensus statement

Sleep

Volumn 37, Issue 6, 2014, Pages 1035-1042

  Baumann, Christian R ^a,b   Mignot, Emmanuel ^c   Lammers, Gert Jan ^d   Overeem, Sebastiaan ^e   Arnulf, Isabelle ^f   Rye, David ^g   Dauvilliers, Yves ^h   Honda, Makoto ⁱ   Owens, Judith A ^j   Plazzi, Giuseppe ^k   Scammell, Thomas E ^b  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^c STANFORD UNIVERSITY   (United States)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f SORBONNE UNIVERSITÉ   (France)

^g EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h GUI DE CHAULIAC HOSPITAL   (France)

ⁱ Tokyo Metropolitan Inst Technol   (Japan)

^j CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^k UNIVERSITY OF BOLOGNA   (Italy)

more..

Author keywords

Insomnia; Multiple sleep latency test; Narcolepsy; Polysomnography

Indexed keywords

OREXIN; OREXIN A; BIOLOGICAL MARKER; NEUROPEPTIDE; SIGNAL PEPTIDE;

ACTIMETRY; ARTICLE; CATAPLEXY; CEREBROSPINAL FLUID; CIRCADIAN RHYTHM SLEEP DISORDER; CLINICAL FEATURE; CONSENSUS; DAYTIME SOMNOLENCE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; EPWORTH SLEEPINESS SCALE; FOLLOW UP; HUMAN; LATENT PERIOD; NARCOLEPSY; NEUROPATHOLOGY; PARASOMNIA; POLYSOMNOGRAPHY; PREVALENCE; PRIORITY JOURNAL; REM SLEEP; SHIFT WORKER; SLEEP; SLEEP DEPRIVATION; SOMNOLENCE; ADULT; CHILD; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETICS; MALE; MEDICAL RESEARCH; PATHOPHYSIOLOGY; PHYSIOLOGY; SELF REPORT; SLEEP STAGE; TRENDS;

ACTIGRAPHY; ADULT; BIOMARKERS; BIOMEDICAL RESEARCH; CHILD; CONSENSUS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; NARCOLEPSY; NEUROPEPTIDES; OREXINS; POLYSOMNOGRAPHY; SELF REPORT; SLEEP DEPRIVATION; SLEEP STAGES;

EID: 84901704426     PISSN: 01618105     EISSN: 15509109     Source Type: Journal    
DOI: 10.5665/sleep.3756     Document Type: Article

References (52)

1. Mignot E, Lammers GJ, Ripley B, et al. The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Arch Neurol 2002;59:1553-62.
2. Singh M, Drake CL, Roth T. The prevalence of multiple sleep-onset REM periods in a population-based sample. Sleep 2006;29:890-5.
3. Mignot E, Lin L, Finn L, Lopes C, Pluff K, Sundstrom ML, Young T. Correlates of sleep-onset REM periods during the multiple sleep latency test in community adults. Brain 2006;129:1609-23. (Pubitemid 43999391)
4. Andlauer O, Moore H 4th, Hong SC, et al. Predictors of hypocretin (orexin) deficiency in narcolepsy without cataplexy. Sleep 2012;35:1247-55.
5. Luca G, Haba-Rubio J, Dauvilliers Y, et al.; European Narcolepsy Network (EU-NN). Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. J Sleep Res 2013;22:482-95.
6. 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 2000;6:991-7.
7. Thannickal TC, Moore RY, Nienhuis R, et al. Reduced number of hypocretin neurons in human narcolepsy. Neuron 2000;27:469-74.
8. Crocker A, España RA, Papadopoulou M, et al. Concomitant loss of dynorphin, NARP, and orexin in narcolepsy. Neurology 2005;65:1184-8. (Pubitemid 41508208)
9. Blouin AM, Thannickal TC, Worley PF, Baraban JM, Reti IM, Siegel JM. Narp immunostaining of human hypocretin (orexin) neurons: loss in narcolepsy. Neurology 2005;65:1189-92. (Pubitemid 41508209)
10. John J, Thannickal TC, McGregor R, et al. Greatly increased numbers of histamine cells in human narcolepsy with cataplexy. Ann Neurol 2013;74:786-93.
11. Valko PO, Gavrilov YV, Yamamoto M, et al. Increase of histaminergic tuberomammillary neurons in narcolepsy. Ann Neurol 2013;74:794-804.
12. Thannickal TC, Nienhuis R, Siegel JM. Localized loss of hypocretin (orexin) cells in narcolepsy without cataplexy. Sleep 2009;32:993-8.
13. Takei Y, Komada Y, Namba K, et al. Differences in findings of nocturnal polysomnography and multiple sleep latency test between narcolepsy and idiopathic hypersomnia. Clin Neurophysiol 2012;123:137-41.
14. Leu-Semenescu S, De Cock VC, Le Masson VD, et al. Hallucinations in narcolepsy with and without cataplexy: contrasts with Parkinson's disease. Sleep Med 2011;12:497-504.
15. Sharpless BA, Barber JP. Lifetime prevalence rates of sleep paralysis: a systematic review. Sleep Med Rev 2011;15:311-5.
16. Ohayon MM. Prevalence of hallucinations and their pathological associations in the general population. Psychiatry Res 2000;97:153-64. (Pubitemid 32126554)
17. Dahmen N, Kasten M, Müller MJ, Mittag K. Frequency and dependence on body posture of hallucinations and sleep paralysis in a community sample. J Sleep Res 2002;11:179-80. (Pubitemid 34587809)
18. 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;9:5-11. (Pubitemid 30195287)
19. Andlauer O, Moore H, Jouhier L, et al. Nocturnal REM sleep latency for identifying patients with narcolepsy/hypocretin deficiency. JAMA Neurol 2013;70:891-902.
20. Aldrich MS, Chervin RD, Malow BA. Value of the multiple sleep latency test (MSLT) for the diagnosis of narcolepsy. Sleep 1997;20:620-9. (Pubitemid 27449600)
21. Trotti LM, Staab BA, Rye DB. Test-retest reliability of the multiple sleep latency test in narcolepsy without cataplexy and idiopathic hypersomnia. J Clin Sleep Med 2013;9:789-95.
22. Littner MR, Kushida C, Wise M, et al.; 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. (Pubitemid 40543126)
23. Dauvilliers Y, Gosselin A, Paquet J, Touchon J, Billiard M, Montplaisir J. Effect of age on MSLT results in patients with narcolepsy-cataplexy. Neurology 2004;62:46-50. (Pubitemid 38082869)
24. Drakatos P, Suri A, Higgins SE, et al. Sleep stage sequence analysis of sleep onset REM periods in the hypersomnias. J Neurol Neurosurg Psychiatry 2013;84:223-7.
25. Wienecke M, Werth E, Poryazova R, et al. Progressive dopamine and hypocretin deficiencies in Parkinson's disease: is there an impact on sleep and wakefulness? J Sleep Res 2012;21:710-7.
26. Marti I, Valko PO, Khatami R, Bassetti CL, Baumann CR. Multiple sleep latency measures in narcolepsy and behaviourally induced insufficient sleep syndrome. Sleep Med 2009;10:1146-50.
27. Heier MS, Evsiukova T, Vilming S, Gjerstad MD, Schrader H, Gautvik K. CSF hypocretin-1 levels and clinical profiles in narcolepsy and idiopathic CNS hypersomnia in Norway. Sleep 2007;30:969-73. (Pubitemid 47221896)
28. 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 2001;68:686-99. (Pubitemid 32202763)
29. Pelin Z, Guilleminault C, Risch N, Grumet FC, Mignot E. HLA-DQB1*06:02 homozygosity increases relative risk for narcolepsy but not disease severity in two ethnic groups. US Modafinil in Narcolepsy Multicenter Study Group. Tissue Antigens 1998;51:96-100. (Pubitemid 28014550)
30. Lin L, Hungs M, Mignot E. Narcolepsy and the HLA region. J Neuroimmunol 2001;117:9-20. (Pubitemid 32595489)
31. Hallmayer J, Faraco J, Lin L, et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet 2009;41:708-11.
32. Anderson KN, Pilsworth S, Sharples LD, Smith IE, Shneerson JM. Idiopathic hypersomnia: a study of 77 cases. Sleep 2007;30:1274-81. (Pubitemid 47548278)
33. Vernet C, Arnulf I. Idiopathic hypersomnia with and without long sleep time: a controlled series of 75 patients. Sleep 2009;32:753-9.
34. Lavault S, Dauvilliers Y, Drouot X, et al. Benefit and risk of modafinil in idiopathic hypersomnia vs. narcolepsy with cataplexy. Sleep Med 2011;12:550-6.
35. Webb WB, Agnew HW Jr. Sleep: effects of a restricted regime. Science 1965;150:1745-7.
36. Young T, Palta M, Dempsey J, Skatrud J, Weber S, Badr S. The occurrence of sleep-disordered breathing among middle-aged adults. N Engl J Med 1993;328:1230-5. (Pubitemid 23115702)
37. Lee ML, Swanson BE, de la Iglesia HO. Circadian timing of REM sleep is coupled to an oscillator within the dorsomedial suprachiasmatic nucleus. Curr Biol 2009;19:848-52.
38. Scammell T. Secondary narcolepsy. In: Culebras A, ed. Sleep disorders and neurologic disease. 2 ed. New York: Informa Healthcare, 2007:117-34.
39. Nishino S, Kanbayashi T. Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system. Sleep Med Rev 2005;9:269-310. (Pubitemid 40982498)
40. Dorris L, Scott N, Zuberi S, Gibson N, Espie C. Sleep problems in children with neurological disorders. Dev Neurorehabil 2008;11:95-114.
41. Dahl RE, Holttum J, Trubnick L. A clinical picture of child and adolescent narcolepsy. J Am Acad Child Adolesc Psychiatry 1994;33:834-41. (Pubitemid 24196907)
42. Serra L, Montagna P, Mignot E, Lugaresi E, Plazzi G. Cataplexy features in childhood narcolepsy. Mov Disord 2008;23:858-65.
43. Plazzi G, Pizza F, Palaia V, et al. Complex movement disorders at disease onset in childhood narcolepsy with cataplexy. Brain 2011;134:3480-92.
44. Gozal D, Wang M, Pope DW Jr. Objective sleepiness measures in pediatric obstructive sleep apnea. Pediatrics 2001;108:693-7. (Pubitemid 32786600)
45. Kotagal S, Goulding PM. The laboratory assessment of daytime sleepiness in childhood. J Clin Neurophysiol 1996;13:208-18. (Pubitemid 26134187)
46. Viorritto EN, Kureshi SA, Owens JA. Narcolepsy in the pediatric population. Curr Neurol Neurosci Rep 2012;12:175-81.
47. Vendrame M, Havaligi N, Matadeen-Ali C, Adams R, Kothare SV. Narcolepsy in children: a single-center clinical experience. Pediatr Neurol 2008;38:314-20. (Pubitemid 351503726)
48. Nevsimalova S, Jara C, Prihodova I, Kemlink D, Sonka K, Skibova J. Clinical features of childhood narcolepsy. Can cataplexy be foretold? Eur J Paediatr Neurol 2011;15:320-5.
49. Han F, Lin L, Warby SC, et al. Narcolepsy onset is seasonal and increased following the 2009 H1N1 pandemic in China. Ann Neurol 2011;70:410-7.
50. Partinen M, Saarenpää-Heikkilä O, Ilveskoski I, et al. Increased incidence and clinical picture of childhood narcolepsy following the 2009 H1N1 pandemic vaccination campaign in Finland. PLoS One 2012;7:e33723.
51. Dauvilliers Y, Montplaisir J, Cochen V, et al. Post-H1N1 narcolepsycataplexy. Sleep 2010;33:1428-30.
52. Ohayon MM, Ferini-Strambi L, Plazzi G, Smirne S, Castronovo V. How age influences the expression of narcolepsy. J Psychosom Res 2005;59:399-405. (Pubitemid 41676897)