Narcolepsy: Genetic predisposition and pathophysiology

Narcolepsy: A Clinical Guide

Volumn , Issue , 2010, Pages 3-21

  Mignot, Emmanuel ^a  

^a STANFORD UNIVERSITY   (United States)

Author keywords

Cerebrospinal fluid; Genetics; Human leukocyte antigen; Hypocretin; Narcolepsy; Neuropeptide

Indexed keywords

EID: 84890294341     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4419-0854-4_1     Document Type: Chapter

References (159)

1. Medicine AAoS. ICSD-2. International Classifcation of Sleep Disorders, 2nd Edition: Diagnostic and Coding Manual. Westchester, Illinois: American Academy of Sleep Medicine; 2005.
2. Nishino S, Ripley B, Overeem S, Lammers GJ, Mignot E. Hypocretin (orexin) defciency in human narcolepsy. Lancet 2000;355(9197):39-40.
3. Peyron C, Faraco J, Rogers W, et al. A mutation in a case of early onset narcolepsy and a generalized absence of hypo-cretin peptides in human narcoleptic brains. Nat Med 2000;6(9):991-7.
4. Thannickal TC, Moore RY, Nienhuis R, et al. Reduced number of hypocretin neurons in human narcolepsy. Neuron 2000;27(3):469-74.
5. Mignot E, Lammers GJ, Ripley B, et al. The role of cerebro-spinal fuid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Arch Neurol 2002; 59(10):1553-62.
6. Kanbayashi T, Inoue Y, Chiba S, et al. CSF hypocretin-1 (orexin-A) concentrations in narcolepsy with and without cataplexy and idiopathic hypersomnia. J Sleep Res 2002; 11(1):91-3.
7. Krahn LE, Pankratz VS, Oliver L, Boeve BF, Silber MH. Hypocretin (orexin) levels in cerebrospinal fuid of patients with narcolepsy: relationship to cataplexy and HLA DQB1*0602 status. Sleep 2002;25(7):733-6.
8. ICSD. International classifcation of sleep disorders. Diagnostic and Coding Manual. Chicago, IL: American Academy of Sleep Medicine; 2003.
9. Chen W, Mignot E. Narcolepsy and hypersomnia of central origin: diagnosis, differential pearls, and management. In: Barkoukis T, Avidan A, eds. Review of Sleep Medicine. 2nd ed. Philadelphia: Butterworth Heinman Elsevier; 2007: 75-94.
10. Mignot E. Excessive daytime sleepiness: population and etiology versus nosology. Sleep Med Rev 2008;12(2):87-94.
11. Hublin C, Kaprio J, Partinen M, Heikkila K, Koskenvuo M. Daytime sleepiness in an adult, Finnish population. J Intern Med 1996;239(5):417-23.
12. Dauvilliers Y, Billiard M, Montplaisir J. Clinical aspects and pathophysiology of narcolepsy. Clin Neurophysiol 2003;114(11):2000-17.
13. Mignot E. Genetic and familial aspects of narcolepsy. Neurology 1998;50(2 Suppl 1):S16-22.
14. 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.
15. Solomon P. Narcolepsy in Negroes. Dis Nerv Syst 1945;6:179-83.
16. Lavie P, Peled R. Narcolepsy is a rare disease in Israel. Sleep 1987;10(6):608-9.
17. Tashiro T, Kambayashi T, Hishikawa Y. An epidemiological study of narcolepsy in Japanese. Tokyo; 1994.
18. Honda Y. Census of narcolepsy, cataplexy and sleep life among teenagers in Fujisawa City. Sleep Res Online 1979;8:191.
19. 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.
20. Mignot E, Lin L, Finn L, et al. Correlates of sleep-onset REM periods during the Multiple Sleep Latency Test in community adults. Brain 2006;129(Pt 6):1609-23.
21. Singh M, Drake CL, Roth T. The prevalence of multiple sleep-onset REM periods in a population-based sample. Sleep 2006;29(7):890-5.
22. Bishop C, Rosenthal L, Helmus T, Roehrs T, Roth T. The frequency of multiple sleep onset REM periods among subjects with no excessive daytime sleepiness. Sleep 1996; 19(9):727-30.
23. Carskadon MA, Wolfson A, Acebo C, Tzinschinsky O, Seifer R. Adolescent sleep patterns, circadian timing, and sleepiness at a transition to early school days. Sleep 1998; 21(8):271-81.
24. 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.
25. Dauvilliers Y, Baumann CR, Carlander B, et al. CSF hypo-cretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. J Neurol Neurosurg Psychiatry 2003;74(12):1667-73.
26. Hong SC, Lin L, Jeong JH, et al. A study of the diagnostic utility of HLA typing, CSF hypocretin-1 measurements, and MSLT testing for the diagnosis of narcolepsy in 163 Korean patients with unexplained excessive daytime sleepiness. Sleep 2006;29(11):1429-38.
27. Bourgin P, Zeitzer JM, Mignot E. CSF hypocretin-1 assessment in sleep and neurological disorders. Lancet Neurol 2008;7(7):649-62.
28. Lin L, Mignot E. Human leukocyte antigen and narcolepsy: present status and relationship with familial history and hypo-cretin defciency. In: Bassetti C, Billiard M, Mignot E, eds. Narcolepsy and Hypersomnia. New York: Informa Health Care; 2007:411-26.
29. Knecht CD, Oliver JE, Redding R, Selcer R, Johnson G. Narcolepsy in a dog and a cat. J Am Vet Med Assoc 1973; 162(12):1052-3.
30. Mitler MM, Boysen BG, Campbell L, Dement WC. Narcolepsy-cataplexy in a female dog. Exp Neurol 1974;45(2):332-40.
31. Baker TL, Foutz AS, McNerney V, Mitler MM, Dement WC. Canine model of narcolepsy: genetic and developmental determinants. Exp Neurol 1982;75(3):729-42.
32. Hungs M, Fan J, Lin L, Lin X, Maki RA, Mignot E. Identifcation and functional analysis of mutations in the hypocretin (orexin) genes of narcoleptic canines. Genome Res 2001;11(4):531-9.
33. Mignot E, Nishino S, Sharp LH, et al. Heterozygosity at the canarc-1 locus can confer susceptibility for narcolepsy: induction of cataplexy in heterozygous asymptomatic dogs after administration of a combination of drugs acting on monoaminergic and cholinergic systems. J Neurosci 1993;13(3):1057-64.
34. Nishino S, Mignot E. Pharmacological aspects of human and canine narcolepsy. Prog Neurobiol 1997;52(1):27-78.
35. Shelton J, Nishino S, Vaught J, Dement WC, Mignot E. Comparative effects of modafnil and amphetamine on daytime sleepiness and cataplexy of narcoleptic dogs. Sleep 1995;18(10):817-26.
36. Kushida CA, Baker TL, Dement WC. Electroencephalographic correlates of cataplectic attacks in narcoleptic canines. Electroencephalogr Clin Neurophysiol 1985;61(1):61-70.
37. 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 1999;98(3):365-76.
38. Ripley B, Fujiki N, Okura M, Mignot E, Nishino S. Hypocretin levels in sporadic and familial cases of canine narcolepsy. Neurobiol Dis 2001;8(3):525-34.
39. Chemelli RM, Willie JT, Sinton CM, et al. Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell 1999;98(4):437-51.
40. Hara J, Beuckmann CT, Nambu T, et al. Genetic ablation of orexin neurons in mice results in narcolepsy, hypophagia, and obesity. Neuron 2001;30(2):345-54.
41. Willie JT, Chemelli RM, Sinton CM, et al. Distinct narcolepsy syndromes in Orexin receptor-2 and Orexin null mice: molecular genetic dissection of Non-REM and REM sleep regulatory processes. Neuron 2003;38(5): 715-30.
42. Kisanuki Y Y, Chemelli RM, Sinton CM, et al. The role of orexin receptor type-1 (OXIR) in the regulation of sleep. Sleep 2000;23(Suppl. 2):A91.
43. Gelb M, Guilleminault C, Kraemer H, et al. Stability of cataplexy over several months-information for the design of therapeutic trials. Sleep 1994;17(3):265-73.
44. Nishino S, Riehl J, Hong J, Kwan M, Reid M, Mignot E. Is narcolepsy a REM sleep disorder? Analysis of sleep abnormalities in narcoleptic Dobermans. Neurosci Res 2000; 38(4):437-46.
45. Okura M, Riehl J, Mignot E, Nishino S. Sulpiride, a D2/D3 blocker, reduces cataplexy but not REM sleep in canine narcolepsy. Neuropsychopharmacology 2000;23(5):528-38.
46. Honda M, Honda Y, Uchida S, Miyazaki S, Tokunaga K. Monozygotic twins incompletely concordant for narcolepsy. Biol Psychiatry 2001;49(11):943-7.
47. Honda Y. A monozygotic pair completely discordant for narcolepsy, with sleep deprivation as a possible precipitating factor. Sleep Biol Rhythms 2003;1:147-9.
48. Dauvilliers Y, Maret S, Bassetti C, et al. A monozygotic twin pair discordant for narcolepsy and CSF hypocretin-1. Neurology 2004;62(11):2137-8.
49. Okun ML, Lin L, Pelin Z, Hong S, Mignot E. Clinical aspects of narcolepsy-cataplexy across ethnic groups. Sleep 2002;25(1):27-35.
50. Gill AW. Idopathic and traumatic narcolepsy. Lancet 1941; 1:474
51. Guilleminault C, Faull KF, Miles L, van den Hoed J. Posttraumatic excessive daytime sleepiness: a review of 20 patients. Neurology 1983;33(12):1584-9.
52. Lankford DA, Wellman JJ, O'Hara C. Posttraumatic narcolepsy in mild to moderate closed head injury. Sleep 1994;17(8 Suppl):S25-8.
53. Orellana C, Villemin E, Tafti M, Carlander B, Besset A, Billiard M. Life events in the year preceding the onset of narcolepsy. Sleep 1994;17(8 Suppl):S50-3.
54. Roth B. Narcolepsy and Hypersomnia. Basel: Karger; 1980.
55. Mueller-Eckhardt G, Meier-Ewart K, Schiefer HG. Is there an infectious origin of narcolepsy? Lancet 1990;335 (8686):424.
56. Dauvilliers Y, Carlander B, Molinari N, et al. Month of birth as a risk factor for narcolepsy. Sleep 2003;26(6):663-5.
57. Ton TG, Longstreth WT, Jr, Koepsell T. Active and passive smoking and risk of narcolepsy in people with HLA DQB1*0602: a population-based case-control study. Neuro-epidemiology 2008;32(2):114-21.
58. Westphal C. Eigenthumliche mit Einschlafen verbundene Anfalle. Arch Psychiat 1877;7:631-5.
59. Krabbe E, Magnussen G. On narcolepsy I. Familial narcolepsy. Acat Psychiat Scand 1942;17:149.
60. 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(17):1230-5.
61. D'Alessandro R, Rinaldi R, Cristina E, Gamberini G, Lugaresi E. Prevalence of excessive daytime sleepiness an open epidemiological problem. Sleep 1995;18(5):389-91.
62. Hungs M, Lin L, Okun M, Mignot E. Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy. Neurology 2001;57(10):1893-5.
63. Olafsdottir BR, Rye DB, Scammell TE, Matheson JK, Stefansson K, Gulcher JR. Polymorphisms in hypocretin/orexin pathway genes and narcolepsy. Neurology 2001;57(10): 1896-9.
64. Ripley B, Overeem S, Fujiki N, et al. CSF hypocretin/orexin levels in narcolepsy and other neurological conditions. Neurology 2001;57(12):2253-8.
65. 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(3):686-99.
66. Honda Y, Asake A, Tanaka Y, Juji T. Discrimination of narcolepsy by using genetic markers and HLA. Sleep Res 1983;12:254.
67. Juji T, Satake M, Honda Y, Doi Y. HLA antigens in Japanese patients with narcolepsy. All the patients were DR2 positive. Tissue Antigens 1984;24:316-9.
68. Mueller-Eckhardt G, Meier-Ewert K, Schendel DJ, Reinecker FB, Multhoff G, Mueller-Eckhardt C. HLA and narcolepsy in a German population. Tissue Antigens 1986;28(3):163-9.
69. Langdon N, Welsh KI, van Dam M, Vaughan RW, Parkes D. Genetic markers in narcolepsy. Lancet 1984;2(8413): 1178-80.
70. Roth B, Nevsimalova S, Sonka K, et al. A study of the occurrence of HLA DR2 in 124 narcoleptics: clinical aspects. Schweiz Arch Neurol Psychiatr 1988;139(4):41-51.
71. Sachs C, Moller E. The occurrence of HLA-DR2 in clinically established narcolepsy. Acta Neurol Scand 1987;75(6):437-9.
72. Billiard M, Seignalet J, Besset A, Cadilhac J. HLA-DR2 and narcolepsy. Sleep 1986;9(1 Pt 2):149-52.
73. Poirier G, Montplaisir J, Decary F, Momege D, Lebrun A. HLA antigens in narcolepsy and idiopathic central nervous system hypersomnolence. Sleep 1986;9(1 Pt 2):153-8.
74. Mignot E, Tafti M, Dement WC, Grumet FC. Narcolepsy and immunity. Adv Neuroimmunol 1995;5(1):23-37.
75. Carlander B, Eliaou JF, Billiard M. Autoimmune hypothesis in narcolepsy. Neurophysiol Clin 1993;23(1):15-22.
76. Black JL, 3rd, Krahn LE, Pankratz VS, Michael S. Search for neuron-specifc and nonneuron-specifc antibodies in narcoleptic patients with and without HLA DQB1*0602. Sleep 2002;25(7):719-23.
77. Overeem S, Geleijins K, Garssen MP, Jacobs BC, van Doorn PA, Lammers GJ. Screening for anti-ganglioside antibodies in hypocretin-defcient human narcolepsy. Neurosci Lett 2003;341(1):13-6.
78. Thannickal TC, Siegel JM, Nienhuis R, Moore RY. Pattern of hypocretin (orexin) soma and axon loss, and gliosis, in human narcolepsy. Brain Pathol 2003;13(3):340-51.
79. Kaufmann C, Schuld A, Pollmacher T, Auer DP. Reduced cortical gray matter in narcolepsy: preliminary fndings with voxel-based morphometry. Neurology 2002;58(12):1852-5.
80. Draganski B, Geisler P, Hajak G, et al. Hypothalamic gray matter changes in narcoleptic patients. Nat Med 2002; 8(11):1186-8.
81. Overeem S, Steens SC, Good CD, et al. Voxel-based mor-phometry in hypocretin-defcient narcolepsy. Sleep 2003; 26(1):44-6.
82. Scammell TE. The frustrating and mostly fruitless search for an autoimmune cause of narcolepsy. Sleep 2006;29(5): 601-2.
83. Bodmer JG, Marsh SG, Albert ED, et al. Nomenclature for factors of the HLA system, 1996. Tissue Antigens 1997;49(3 Pt 2):297-321.
84. Mignot E, Lin X, Arrigoni J, et al. 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.
85. Mignot E, Kimura A, Lattermann A, et al. Extensive HLA class II studies in 58 non-DRB1*15 (DR2) narcoleptic patients with cataplexy. Tissue Antigens 1997;49(4):329-41.
86. Ellis MC, Hetisimer AH, Ruddy DA, et al. HLA class II haplotype and sequence analysis support a role for DQ in narcolepsy. Immunogenetics 1997;46(5):410-7.
87. 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 Modafnil in Narcolepsy Multicenter Study Group. Tissue Antigens 1998;51(1):96-100.
88. Hong SC, Lin L, Lo B, et al. DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans. Hum Immunol 2007;68(1):59-68.
89. Anic-Labat S, Guilleminault C, Kraemer HC, Meehan J, Arrigoni J, Mignot E. Validation of a cataplexy questionnaire in 983 sleep-disorders patients. Sleep 1999;22(1): 77-87.
90. Mignot E, Lin X, Kalil J, et al. DQB1-0602 (DQw1) is not present in most nonDR2 Caucasian narcoleptics. Sleep 1992;15(5):415-22.
91. Nakayama J, Miura M, Honda M, Miki T, Honda Y, Arinami T. Linkage of human narcolepsy with HLA association to chromosome 4p13-q21. Genomics 2000;65(1):84-6.
92. Hohjoh H, Terada N, Nakayama T, et al. Case-control study with narcoleptic patients and healthy controls who, like the patients, possess both HLA-DRB1*1501 and-DQB1*0602. Tissue Antigens 2001;57(3):230-5.
93. Kato T, Honda M, Kuwata S, et al. Novel polymorphism in the promoter region of the tumor necrosis factor alpha gene: No association with narcolepsy. Am J Med Genet 1999;88(4):301-4.
94. Wieczorek S, Gencik M, Rujescu D, et al. TNFA promoter polymorphisms and narcolepsy. Tissue Antigens 2003;61(6): 437-42.
95. Dauvilliers Y, Neidhart E, Billiard M, Tafti M. Sexual dimorphism of the catechol-O-methyltransferase gene in narcolepsy is associated with response to modafnil. Pharmacogenomics J 2002;2(1):65-8.
96. 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.
97. Miyagawa T, Kawashima M, Nishida N, et al. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. Nat Genet 2008;40(11):1324-8.
98. Evans RW. Complications of lumbar puncture. Neurol Clin 1998;16(1):83-105.
99. Serra L, Montagna P, Mignot E, Lugaresi E, Plazzi G. Cataplexy features in childhood narcolepsy. Mov Disord 2008;23(6):858-65.
100. Dalal MA, Schuld A, Pollmacher T. Undetectable CSF level of orexin A (hypocretin-1) in a HLA-DR2 negative patient with narcolepsy-cataplexy. J Sleep Res 2002; 11(3):273.
101. Hecht M, Lin L, Kushida CA, et al. Report of a case of immunosuppression with prednisone in an 8-year-old boy with an acute onset of hypocretin-defcient narcolepsy. Sleep 2003;26:809-10.
102. Kubota H, Kanbayashi T, Tanabe Y, et al. Decreased cere-brospinal fuid hypocretin-1 levels near the onset of narcolepsy in 2 prepubertal children. Sleep 2003;26(5):555-7.
103. Salomon RM, Ripley B, Kennedy JS, et al. Diurnal variation of cerebrospinal fuid hypocretin-1 (Orexin-A) levels in control and depressed subjects. Biol Psychiatry 2003;54(2):96-104.
104. Thannickal TC, Lai Y Y, Siegel JM. Hypocretin (orexin) cell loss in Parkinson's disease. Brain 2007;130(Pt 6): 1586-95.
105. Fronczek R, Overeem S, Lee SY, et al. Hypocretin (orexin) loss in Parkinson's disease. Brain 2007;130(Pt 6): 1577-85.
106. Aziz A, Fronczek R, Maat-Schieman M, et al. Hypocretin and melanin-concentrating hormone in patients with Huntington disease. Brain Pathol 2008;18(4):474-83.
107. Gaus SE, Lin L, Mignot E. CSF hypocretin levels are normal in Huntington's disease patients. Sleep 2005; 28(12):1607-8.
108. von Economo C. Encephalitis lethargica ITS sequelae and treatment. London: Oxford University Press; 1931.
109. von Economo C. Sleep as a problem of localization. J Nerv Ment Dis 1930;71(3):249-59.
110. Daniels LE. Narcolepsy. Medicine 1934;XIII(1):1-122.
111. Mignot E. A hundred years of narcolepsy research. Arch Ital Biol 2001;139(3):207-20.
112. Symonds CP. Narcolepsy as a symptom of encephalitis lethargica. Lancet 1926;12:1214-5.
113. Adie WJ. Idiopathic narcolepsy: a disease sui generis; with remarks on the mechanism of sleep. Brain 1926;XLIX: 257-306.
114. Aldrich MS, Naylor MW. Narcolepsy associated with lesions of the diencephalon. Neurology 1989;39(11): 1505-8.
115. Melberg A, Hetta J, Dahl N, et al. Autosomal dominant cerebellar ataxia deafness and narcolepsy. J Neurol Sci 1995;134(1-2):119-29.
116. Melberg A, Ripley B, Lin L, Hetta J, Mignot E, Nishino S. Hypocretin defciency in familial symptomatic narcolepsy. Ann Neurol 2001;49(1):136-7.
117. Hor H, Vicário JL, Pfster C, Lammers GJ, Tafti M, Peraita-Adrados R. Familial narcolepsy, obesity, and type 2 diabetes with hypocretin defciency. Eur J Med Sci 2008;138 (Supplementum 162):5S.
118. Nelson GB, Hahn JS. Stimulus-induced drop episodes in Coffn-Lowry syndrome. Pediatrics 2003;111(3):197-202.
119. Parkes JD. Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome. J Sleep Res 1999;8 Suppl 1:14-22.
120. -pediatrics 2003;34(1):52-3.
121. Vankova J, Stepanova I, Jech R, et al. Sleep disturbances and hypocretin defciency in Niemann-Pick disease type C. Sleep 2003;26(4):427-30.
122. Martinez-Rodriguez JE, Lin L, Iranzo A, et al. Decreased hypocretin-1 (Orexin-A) levels in the cerebrospinal fuid of patients with myotonic dystrophy and excessive daytime sleepiness. Sleep 2003;26(3):287-90.
123. Katz ES, McGrath S, Marcus CL. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome. Pediatr Pulmonol 2000;29(1):62-8.
124. Mignot E, Renaud A, Nishino S, Arrigoni J, Guilleminault C, Dement WC. Canine cataplexy is preferentially controlled by adrenergic mechanisms: evidence using mono-amine selective uptake inhibitors and release enhancers. Psychopharmacology (Berl) 1993;113(1):76-82.
125. Nishino S, Arrigoni J, Shelton J, Dement WC, Mignot E. Desmethyl metabolites of serotonergic uptake inhibitors are more potent for suppressing canine cataplexy than their parent compounds. Sleep 1993;16(8):706-12.
126. Nishino S, Mao J, Sampathkumaran R, Shelton J. Increased dopaminergic transmission mediates the wake-promoting effects of CNS stimulants. Sleep Res Online 1998;1(1):49-61.
127. Wisor JP, Nishino S, Sora I, Uhl GH, Mignot E, Edgar DM. Dopaminergic role in stimulant-induced wakefulness. J Neurosci 2001;21(5):1787-94.
128. Mignot E, Nishino S, Guilleminault C, Dement WC. Modafnil binds to the dopamine uptake carrier site with low affnity. Sleep 1994;17(5):436-7.
129. Kanbayashi T, Honda K, Kodama T, Mignot E, Nishino S. Implication of dopaminergic mechanisms in the wake-promoting effects of amphetamine: a study of D-and L-derivatives in canine narcolepsy. Neuroscience 2000;99(4):651-9.
130. Miller JD, Farber J, Gatz P, Roffwarg H, German DC. Activity of mesencephalic dopamine and non-dopamine neurons across stages of sleep and walking in the rat. Brain Res 1983;273(1):133-41.
131. Steinfels GF, Heym J, Strecker RE, Jacobs BL. Behavioral correlates of dopaminergic unit activity in freely moving cats. Brain Res 1983;258(2):217-28.
132. Guilleminault C. Narcolepsy Syndrome. In: Kryger MH, Roth T, Dement WC, eds. Principles and Practice of Sleep Medicine. Philadelphia: W. B. Saunders Co; 2003.
133. Castelli MP, Ferraro L, Mocci I, et al. Selective gamma-hydroxybutyric acid receptor ligands increase extracellular glutamate in the hippocampus, but fail to activate G protein and to produce the sedative/hypnotic effect of gamma-hydroxybutyric acid. J Neurochem 2003;87(3):722-32.
134. Queva C, Bremner-Danielsen M, Edlund A, et al. Effects of GABA agonists on body temperature regulation in GABA(B(1))-/-mice. Br J Pharmacol 2003;140(2):315-22.
135. Baker TL, Dement WC. Canine narcolepsy-cataplexy syndrome: evidence for an inherited monoaminergic-cholinergic imbalance. In: McGinty DJ, Drucker-Colin R, Morrison A, Parmeggiani PL, eds. Brain Mechanisms of Sleep. New York: Raven; 1985:199-233.
136. Aldrich MS. The neurobiology of narcolepsy-cataplexy. Prog Neurobiol 1993;41(5):533-41.
137. Miller JD, Faull KF, Bowersox SS, Dement WC. CNS monoamines and their metabolites in canine narcolepsy: a replication study. Brain Res 1990;509(1):169-71.
138. Kilduff TS, Bowersox SS, Kaitin KI, Baker TL, Ciaranello RD, Dement WC. Muscarinic cholinergic receptors and the canine model of narcolepsy. Sleep 1986;9(1 Pt 2): 102-6.
139. Kish SJ, Mamelak M, Slimovitch C, et al. Brain neurotrans-mitter changes in human narcolepsy. Neurology 1992; 42(1):229-34.
140. Aldrich MS, Hollingsworth Z, Penney JB. Dopamine-receptor autoradiography of human narcoleptic brain. Neurology 1992;42(2):410-5.
141. Aldrich MS, Prokopowicz G, Ockert K, Hollingsworth Z, Penney JB, Albin RL. Neurochemical studies of human narcolepsy: alpha-adrenergic receptor autoradiography of human narcoleptic brain and brainstem. Sleep 1994; 17(7):598-608.
142. Bowersox SS, Kilduff TS, Faull KF, Zeller-DeAmicis L, Dement WC, Ciaranello RD. Brain dopamine receptor levels elevated in canine narcolepsy. Brain Res 1987; 402(1):44-8.
143. Khan N, Antonini A, Parkes D, et al. Striatal dopamine D2 receptors in patients with narcolepsy measured with PET and 11C-raclopride. Neurology 1994;44(11):2102-4.
144. Rinne JO, Hublin C, Partinen M, et al. Positron emission tomography study of human narcolepsy: no increase in stri-atal dopamine D2 receptors. Neurology 1995;45(9):1735-8.
145. MacFarlane JG, List SJ, Moldofsky H, et al. Dopamine D2 receptors quantifed in vivo in human narcolepsy. Biol Psychiatry 1997;41(3):305-10.
146. Faull KF, Guilleminault C, Berger PA, Barchas JD. Cerebrospinal fuid monoamine metabolites in narcolepsy and hypersomnia. Ann Neurol 1983;13(3):258-63.
147. Nishino S, Fujiki N, Ripley B, et al. Decreased brain hista-mine content in hypocretin/orexin receptor-2 mutated nar-coleptic dogs. Neurosci Lett 2001;313(3):125-8.
148. Nishino S, Shelton J, Reid MS, Siegel JM, Dement WC, Mignot E. A cholinoceptive site in the basal forebrain is involved in canine cataplexy. Abstract Book: Soc Neurosci 1992;18:880.
149. Reid MS, Nishino S, Tafti M, Siegel JM, Dement WC, Mignot E. Neuropharmacological characterization of basal forebrain cholinergic stimulated cataplexy in narcoleptic canines. Exp Neurol 1998;151(1):89-104.
150. Reid MS, Tafti M, Nishino S, Sampathkumaran R, Siegel JM, Mignot E. Local administration of dopaminergic drugs into the ventral tegmental area modulates cataplexy in the narcoleptic canine. Brain Res 1996;733(1):83-100.
151. John J, Wu MF, Siegel JM. Systemic administration of hypocretin-1 reduces cataplexy and normalizes sleep and waking durations in narcoleptic dogs. Sleep Res Online 2000;3(1):23-8.
152. Nishino S, Fujiki N, Yoshida Y, Mignot E. The effects of hypocretin-1 in hypocretin receptor-2 mutated and hypocre-tin defcient narcoleptic dogs. Sleep 2003;26(Suppl):A287.
153. Yoshida Y, Fujiki N, Maki RA, Schwarz D, Nishino S. Differential kinetics of hypocretins in the cerebrospinal fuid after intracerebroventricular administration in rats. Neurosci Lett 2003;346(3):182-6.
154. Scammell TE, Nishino S, Mignot E, Saper CB. Narcolepsy and low CSF orexin (hypocretin) concentration after a diencephalic stroke. Neurology 2001;56(12):1751-3.
155. Schatzberg SJ, Barrett J, Cutter K, et al. The effect of hypo-cretin replacement therapy in a 3-year-old weimaraner with narcolepsy. J Vet Intern Med 2004;18(4):586-8.
156. Mignot E, Chen W, Black J. On the value of measuring CSF hypocretin-1 in diagnosing narcolepsy. Sleep 2003; 26(6):646-9.
157. Longstreth WT, Jr., Koepsell TD, Ton TG, Hendrickson AF, van Belle G. The epidemiology of narcolepsy. Sleep 2007;30(1):13-26.
158. Lecendreux M, Maret S, Bassetti C, Mouren MC, Tafti M. Clinical effcacy of high-dose intravenous immunoglobu-lins near the onset of narcolepsy in a 10-year-old boy. J Sleep Res 2003;12:1-2.
159. Bassetti C, Gugger M, Bischof M, et al. The narcoleptic borderland: a multimodal diagnostic approach including cerebrospinal fuid levels of hypocretin-1 (orexin A). Sleep Med 2003;4(1):7-12.