Genetics of Sleep and Sleep Disorders in Humans

Principles and Practice of Sleep Medicine: Fifth Edition

Volumn , Issue , 2010, Pages 184-198

  Faraco, Juliette ^a   Mignot, Emmanuel ^b  

^a Stanford California and Cofounder   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84859298941     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-1-4160-6645-3.00016-5     Document Type: Chapter

References (138)

1. Mignot E Why we sleep: the temporal organization of recovery. PLoS Biol 2008, 6(4):e106.
2. Saper CB, Chou TC, Scammell TE The sleep switch: hypothalamic control of sleep and wakefulness. Trends Neurosci 2001, 24(12):726-731.
3. Siepka SM, Yoo SH, Park J, et al. Genetics and neurobiology of circadian clocks in mammals. Cold Spring Harb Symp Quant Biol 2007, 72:251-259.
4. Tobler I, Borbely AA Sleep EEG in the rat as a function of prior waking. Electroencephalogr Clin Neurophysiol 1986, 64(1):74-76.
5. Werth E, Dijk DJ, Achermann P, Borbély AA Dynamics of the sleep EEG after an early evening nap: experimental data and simulations. Am J Physiol 1996, 271(3 Pt. 2):R501-R510.
6. Tononi G, Cirelli C Sleep function and synaptic homeostasis. Sleep Med Rev 2006, 10(1):49-62.
7. Franken P, Chollet D, Tafti M The homeostatic regulation of sleep need is under genetic control. J Neurosci 2001, 21(8):2610-2621.
8. van Beijsterveldt CE, Boomsma DI Genetics of the human electroencephalogram (EEG) and event-related brain potentials (ERPs): a review. Hum Genet 1994, 94(4):319-330.
9. van Beijsterveldt CE, Molenaar PC, de Geus EJ, Boomsma DI Heritability of human brain functioning as assessed by electroencephalography. Am J Hum Genet 1996, 58(3):562-573.
10. Ambrosius U, Lietzenmaier S, Wehrle R, et al. Heritability of sleep electroencephalogram. Biol Psychiatry 2008, 64(4):344-348.
11. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K A comprehensive review of genetic association studies. Genet Med 2002, 4(2):45-61.
12. Munafò MR, Yalcin B, Willis-Owen SA, Flint J Association of the dopamine D4 receptor (DRD4) gene and approach-related personality traits: meta-analysis and new data. Biol Psychiatry 2008, 63(2):197-206.
13. Paterson AD, Sunohara GA, Kennedy JL Dopamine D4 receptor gene: novelty or nonsense?. Neuropsychopharmacology 1999, 21(1):3-16.
14. Katzenberg D, Young T, Finn L, et al. A CLOCK polymorphism associated with human diurnal preference. Sleep 1998, 21(6):569-576.
15. Chanock SJ, Manolio T, Boehnke M, et al. Replicating genotype-phenotype associations. Nature 2007, 447(7145):655-660. NCI-NHGRI Working Group on Replication in Association Studies.
16. Ko CH, Takahashi JS Molecular components of the mammalian circadian clock. Hum Mol Genet 2006, (15 Spec No 2):R271-R277.
17. Jones CR, Campbell SS, Zone SE, et al. Familial advanced sleep-phase syndrome: a short-period circadian rhythm variant in humans. Nat Med 1999, 5(9):1062-1065.
18. Toh KL, Jones CR, He Y, et al. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science 2001, 291(5506):1040-1043.
19. Xu Y, Padiath QS, Shapiro RE, et al. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature 2005, 434(7033):640-644.
20. Lowrey PL, Shimomura K, Antoch MP, et al. Positional syntenic cloning and functional characterization of the mammalian circadian mutation tau. Science 2000, 288(5465):483-492.
21. Vanselow K, Vanselow JT, Westermark PO, et al. Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome (FASPS). Genes Dev 2006, 20(19):2660-2672.
22. Xu Y, Toh KL, Jones CR, et al. Modeling of a human circadian mutation yields insights into clock regulation by PER2. Cell 2007, 128(1):59-70.
23. Mignot E, Takahashi JS A circadian sleep disorder reveals a complex clock. Cell 2007, 128(1):22-23.
24. Drennan MD, Klauber MR, Kripke DF, Goyette LM The effects of depression and age on the Horne-Ostberg morningness-eveningness score. J Affect Disord 1991, 23(2):93-98.
25. Robilliard DL, Archer SN, Arendt J, et al. The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects. J Sleep Res 2002, 11(4):305-312.
26. Mishima K, Tozawa T, Satoh K, et al. The 3111T/C polymorphism of hClock is associated with evening preference and delayed sleep timing in a Japanese population sample. Am J Med Genet B Neuropsychiatr Genet 2005, 133B(1):101-104.
27. Archer SN, Robilliard DL, Skene DJ, et al. A length polymorphism in the circadian clock gene Per3 is linked to delayed sleep phase syndrome and extreme diurnal preference. Sleep 2003, 26(4):413-415.
28. Ebisawa T, Uchiyama M, Kajimura N, et al. Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. EMBO Rep 2001, 2(4):342-346.
29. Jones KH, Ellis J, von Schantz M, et al. Age-related change in the association between a polymorphism in the PER3 gene and preferred timing of sleep and waking activities. J Sleep Res 2007, 16(1):12-16.
30. Carpen JD, von Schantz M, Smits M, et al. A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans. J Hum Genet 2006, 51(12):1122-1125.
31. Katzenberg D, Young T, Lin L, et al. A human period gene (HPER1) polymorphism is not associated with diurnal preference in normal adults. Psychiatr Genet 1999, 9(2):107-109.
32. Franken P, Malafosse A, Tafti M Genetic variation in EEG activity during sleep in inbred mice. Am J Physiol 1998, 275(4 Pt. 2):R1127-R1137.
33. Tafti M, Petit B, Chollet D, et al. Deficiency in short-chain fatty acid beta-oxidation affects theta oscillations during sleep. Nat Genet 2003, 34(3):320-325.
34. Maret S, Dorsaz S, Gurcel L, et al. Homer1a is a core brain molecular correlate of sleep loss. Proc Natl Acad Sci U S A 2007, 104(50):20090-20095.
35. Mackiewicz M, Paigen B, Naidoo N, Pack AI Analysis of the QTL for sleep homeostasis in mice: Homer1a is a likely candidate. Physiol Genomics 2008, 33(1):91-99.
36. Viola AU, Archer SN, James LM, et al. PER3 polymorphism predicts sleep structure and waking performance. Curr Biol 2007, 17(7):613-618.
37. Archer SN, Viola AU, Kyriakopoulou V, et al. Inter-individual differences in habitual sleep timing and entrained phase of endogenous circadian rhythms of BMAL1, PER2 and PER3 mRNA in human leukocytes. Sleep 2008, 31(5):608-617.
38. Viola AU, James LM, Archer SN, Dijk DJ PER3 polymorphism and cardiac autonomic control: effects of sleep debt and circadian phase. Am J Physiol Heart Circ Physiol 2008, 295(5):H2156-H2163.
39. Chabas D, Taheri S, Renier C, Mignot E The genetics of narcolepsy. Annu Rev Genomics Hum Genet 2003, 4:459-483.
40. 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(5):316-319.
41. 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):686-699.
42. 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.
43. Hor H, Kutalik Z, Dauvilliers Y, Valsesia A, et al. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet 2010, 42(9):786-789.
44. Cvetkovic-Lopes V, Bayer L, Dorsaz S, et al. Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients. J Clin Invest 2010, 120(3):713-719.
45. Kawashima M, Lin L, Tanaka S, et al. Anti-Tribbles homolog 2 (TRIB2) autoantibodies in narcolepsy are associated with recent onset of cataplexy. Sleep 2010, 33(7):869-874.
46. Toyoda H, Tanaka S, Miyagawa T, et al. Anti-Tribbles homolog 2 autoantibodies in Japanese patients with narcolepsy. Sleep 2010, 33(7):875-878.
47. Overeem S, Black JL, Lammers GJ Narcolepsy: immunological aspects. Sleep Med Rev 2008, 12(2):95-107.
48. Scammell TE The frustrating and mostly fruitless search for an autoimmune cause of narcolepsy. Sleep 2006, 29(5):601-602.
49. 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):365-376.
50. Nishino S, Ripley B, Overeem S, et al. Hypocretin (orexin) deficiency in human narcolepsy. Lancet 2000, 355(9197):39-40.
51. 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(9):991-997.
52. Thannickal TC, Moore RY, Nienhuis R, et al. Reduced number of hypocretin neurons in human narcolepsy. Neuron 2000, 27(3):469-474.
53. 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):1893-1895.
54. Olafsdóttir BR, Rye DB, Scammell TE, et al. Polymorphisms in hypocretin/orexin pathway genes and narcolepsy. Neurology 2001, 57(10):1896-1899.
55. Dauvilliers Y, Blouin JL, Neidhart E, et al. A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q. Ann Neurol 2004, 56(3):382-388.
56. Nakayama J, Miura M, Honda M, et al. Linkage of human narcolepsy with HLA association to chromosome 4p13-q21. Genomics 2000, 65(1):84-86.
57. Miyagawa T, Kawashima M, Nishida N, et al. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. Nat Genet 2008, 40(11):1324-1328.
58. Hallmayer J, Faraco J, Lin L, et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet 2009.
59. Winkelmann J, Polo O, Provini F, et al. Genetics of restless legs syndrome (RLS): state-of-the-art and future directions. Mov Disord 2007, 22(Suppl. 18):S449-S458.
60. Montplaisir J, Boucher S, Poirier G, et al. Clinical, polysomnographic, and genetic characteristics of restless legs syndrome: a study of 133 patients diagnosed with new standard criteria. Mov Disord 1997, 12(1):61-65.
61. Ondo WG, Vuong KD, Wang Q Restless legs syndrome in monozygotic twins: clinical correlates. Neurology 2000, 55(9):1404-1406.
62. Desai AV, Cherkas LF, Spector TD, Williams AJ Genetic influences in self-reported symptoms of obstructive sleep apnoea and restless legs: a twin study. Twin Res 2004, 7(6):589-595.
63. Winkelmann J, Wetter TC, Collado-Seidel V, et al. Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patients. Sleep 2000, 23(5):597-602.
64. Winkelmann J, Schormair B, Lichtner P, et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 2007, 39(8):1000-1006.
65. Stefansson H, Rye DB, Hicks A, et al. A genetic risk factor for periodic limb movements in sleep. N Engl J Med 2007, 357(7):639-647.
66. Vilarino-Guell C, Farrer MJ, Lin SC A genetic risk factor for periodic limb movements in sleep. N Engl J Med 2008, 358(4):425-427.
67. Azcoitia V, Aracil M, Martínez AC, Torres M The homeodomain protein Meis1 is essential for definitive hematopoiesis and vascular patterning in the mouse embryo. Dev Biol 2005, 280(2):307-320.
68. Hisa T, Spence SE, Rachel RA, et al. Hematopoietic, angiogenic and eye defects in Meis1 mutant animals. Embo J 2004, 23(2):450-459.
69. Minehata K, Kawahara A, Suzuki T Meis1 regulates the development of endothelial cells in zebrafish. Biochem Biophys Res Commun 2008, 374(4):647-652.
70. Haba-Rubio J, Staner L, Petiau C, et al. Restless legs syndrome and low brain iron levels in patients with haemochromatosis. J Neurol Neurosurg Psychiatry 2005, 76(7):1009-1010.
71. Lavoie S, Drew T Discharge characteristics of neurons in the red nucleus during voluntary gait modifications: a comparison with the motor cortex. J Neurophysiol 2002, 88(4):1791-1814.
72. Mercader N, Leonardo E, Azpiazu N, et al. Conserved regulation of proximodistal limb axis development by Meis1/Hth. Nature 1999, 402(6760):425-429.
73. Clemens S, Rye D, Hochman S Restless legs syndrome: revisiting the dopamine hypothesis from the spinal cord perspective. Neurology 2006, 67(1):125-130.
74. Bara-Jimenez W, Aksu M, Graham B, et al. Periodic limb movements in sleep: state-dependent excitability of the spinal flexor reflex. Neurology 2000, 54(8):1609-1616.
75. Godt D, Couderc JL, Cramton SE, Laski FA Pattern formation in the limbs of Drosophila: bric a brac is expressed in both a gradient and a wave-like pattern and is required for specification and proper segmentation of the tarsus. Development 1993, 119(3):799-812.
76. Stogios PJ, Downs GS, Jauhal JJ, et al. Sequence and structural analysis of BTB domain proteins. Genome Biol 2005, 6(10):R82.
77. Cheng L, Samad OA, Xu Y, et al. Lbx1 and Tlx3 are opposing switches in determining GABAergic versus glutamatergic transmitter phenotypes. Nat Neurosci 2005, 8(11):1510-1515.
78. Schormair B, Kemlink D, Roeske D, et al. PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat Genet 2008, 40(8):946-948.
79. Uetani N, Chagnon MJ, Kennedy TE, et al. Mammalian motoneuron axon targeting requires receptor protein tyrosine phosphatases sigma and delta. J Neurosci 2006, 26(22):5872-5880.
80. Winkelmann J, Lichtner P, Schormair B, et al. Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome. Mov Disord 2008, 23(3):350-358.
81. Perlis ML, Kehr EL, Smith MT, et al. Temporal and stagewise distribution of high frequency EEG activity in patients with primary and secondary insomnia and in good sleeper controls. J Sleep Res 2001, 10(2):93-104.
82. Beaulieu-Bonneau S, LeBlanc M, Mérette C, et al. Family history of insomnia in a population-based sample. Sleep 2007, 30(12):1739-1745.
83. Dauvilliers Y, Morin C, Cervena K, et al. Family studies in insomnia. J Psychosom Res 2005, 58(3):271-278.
84. Watson NF, Goldberg J, Arguelles L, Buchwald D Genetic and environmental influences on insomnia, daytime sleepiness, and obesity in twins. Sleep 2006, 29(5):645-649.
85. Ohayon MM From wakefulness to excessive sleepiness: what we know and still need to know. Sleep Med Rev 2008, 12(2):129-141.
86. Gottlieb DJ, O'Connor GT, Wilk JB Genome-wide association of sleep and circadian phenotypes. BMC Med Genet 2007, (8 Suppl. 1):S9.
87. 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(10):1553-1562.
88. Arnulf I, Lin L, Gadoth N, et al. Kleine-Levin syndrome: a systematic study of 108 patients. Ann Neurol 2008, 63(4):482-493.
89. Arnulf I, Zeitzer JM, File J, et al. Kleine-Levin syndrome: a systematic review of 186 cases in the literature. Brain 2005, 128(Pt. 12):2763-2776.
90. Dauvilliers Y, Mayer G, Lecendreux M, et al. Kleine-Levin syndrome: an autoimmune hypothesis based on clinical and genetic analyses. Neurology 2002, 59(11):1739-1745.
91. Mignot E Genetics of narcolepsy and other sleep disorders. Am J Hum Genet 1997, 60(6):1289-1302.
92. Massicotte-Marquez J, Décary A, Gagnon JF, et al. Executive dysfunction and memory impairment in idiopathic REM sleep behavior disorder. Neurology 2008, 70(15):1250-1257.
93. Hublin C, Kaprio J, Partinen M, et al. Prevalence and genetics of sleepwalking: a population-based twin study. Neurology 1997, 48(1):177-181.
94. Hublin C, Kaprio J, Partinen M, Koskenvu M Parasomnias: co-occurrence and genetics. Psychiatr Genet 2001, 11(2):65-70.
95. Lugaresi E The thalamus and insomnia. Neurology 1992, 42(7 Suppl. 6):28-33.
96. Lugaresi E, Cirignotta F, Montagna P Nocturnal paroxysmal dystonia. J Neurol Neurosurg Psychiatry 1986, 49(4):375-380.
97. Nobili L Nocturnal frontal lobe epilepsy and non-rapid eye movement sleep parasomnias: differences and similarities. Sleep Med Rev 2007, 11(4):251-254.
98. Provini F, Plazzi G, Lugaresi E From nocturnal paroxysmal dystonia to nocturnal frontal lobe epilepsy. Clin Neurophysiol 2000, 111(Suppl. 2):S2-S8.
99. Aridon P, Marini C, Di Resta C, et al. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 2006, 79(2):342-350.
100. Chen Y, Wu L, Fang Y, et al. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. Epilepsy Res 2009, 83:152-156.
101. De Fusco M, Becchetti A, Patrignani A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000, 26(3):275-276.
102. Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995, 11(2):201-203.
103. Combi R, Dalprà L, Ferini-Strambi L, Tenchini ML Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. Ann Neurol 2005, 58(6):899-904.
104. Young T, Palta M, Dempsey J, et al. The occurrence of sleep-disordered breathing among middle-aged adults. N Engl J Med 1993, 328(17):1230-1235.
105. Ancoli-Israel S, Kripke DF, Klauber MR, et al. Sleep-disordered breathing in community-dwelling elderly. Sleep 1991, 14(6):486-495.
106. Guilleminault C, Partinen M, Hollman K, et al. Familial aggregates in obstructive sleep apnea syndrome. Chest 1995, 107(6):1545-1551.
107. Palmer LJ, Buxbaum SG, Larkin EK, et al. A whole-genome scan for obstructive sleep apnea and obesity. Am J Hum Genet 2003, 72(2):340-350.
108. Palmer LJ, Buxbaum SG, Larkin EK, et al. Whole genome scan for obstructive sleep apnea and obesity in African-American families. Am J Respir Crit Care Med 2004, 169(12):1314-1321.
109. White DP Pathogenesis of obstructive and central sleep apnea. Am J Respir Crit Care Med 2005, 172(11):1363-1370.
110. Kadotani H, Kadotani T, Young T, et al. Association between apolipoprotein E epsilon4 and sleep-disordered breathing in adults. JAMA 2001, 285(22):2888-2890.
111. Gottlieb DJ, DeStefano AL, Foley DJ, et al. APOE epsilon4 is associated with obstructive sleep apnea/hypopnea: the Sleep Heart Health Study. Neurology 2004, 63(4):664-668.
112. Foley DJ, Masaki K, White L, Redline S Relationship between apolipoprotein E epsilon4 and sleep-disordered breathing at different ages. JAMA 2001, 286(12):1447-1448.
113. Saarelainen S, Lehtimäki T, Kallonen E, et al. No relation between apolipoprotein E alleles and obstructive sleep apnea. Clin Genet 1998, 53(2):147-148.
114. Larkin EK, Patel SR, Redline S, et al. Apolipoprotein E and obstructive sleep apnea: evaluating whether a candidate gene explains a linkage peak. Genet Epidemiol 2006, 30(2):101-110.
115. Gozal D, Capdevila OS, Kheirandish-Gozal L, Crabtree VM APOE epsilon 4 allele, cognitive dysfunction, and obstructive sleep apnea in children. Neurology 2007, 69(3):243-249.
116. Kalra M, Pal P, Kaushal R, et al. Association of ApoE genetic variants with obstructive sleep apnea in children. Sleep Med 2008, 9(3):260-265.
117. Chen ML, Keens TG Congenital central hypoventilation syndrome: not just another rare disorder. Paediatr Respir Rev 2004, 5(3):182-189.
118. Weese-Mayer DE, Silvestri JM, Huffman AD, et al. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. Am J Med Genet 2001, 100(3):237-245.
119. Amiel J, Laudier B, Attié-Bitach T, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003, 33(4):459-461.
120. Repetto GM, Corrales RJ, Abara SG, et al. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr 2009, 98:192-195.
121. Goldfarb LG, Petersen RB, Tabaton M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992, 258(5083):806-808.
122. Mastrianni JA, Nixon R, Layzer R, et al. Prion protein conformation in a patient with sporadic fatal insomnia. N Engl J Med 1999, 340(21):1630-1638.
123. Smith AC, Dykens E, Greenberg F Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). Am J Med Genet 1998, 81(2):186-191.
124. De Leersnyder H, De Blois MC, Claustrat B, et al. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr 2001, 139(1):111-116.
125. Marcus CL, Keens TG, Bautista DB, et al. Obstructive sleep apnea in children with Down syndrome. Pediatrics 1991, 88(1):132-139.
126. Judge DP, Dietz HC Marfan's syndrome. Lancet 2005, 366(9501):1965-1976.
127. Westling L, Mohlin B, Bresin A Craniofacial manifestations in the Marfan syndrome: palatal dimensions and a comparative cephalometric analysis. J Craniofac Genet Dev Biol 1998, 18(4):211-218.
128. Cistulli PA, Gotsopoulos H, Sullivan CE Relationship between craniofacial abnormalities and sleep-disordered breathing in Marfan's syndrome. Chest 2001, 120(5):1455-1460.
129. Cistulli PA, Wilcox I, Jeremy R, Sullivan CE Aortic root dilatation in Marfan's syndrome: a contribution from obstructive sleep apnea?. Chest 1997, 111(6):1763-1766.
130. Arnulf I, Nielsen J, Lohmann E, et al. Rapid eye movement sleep disturbances in Huntington disease. Arch Neurol 2008, 65(4):482-488.
131. Videnovic A, Leurgans S, Fan W, et al. Daytime somnolence and nocturnal sleep disturbances in Huntington disease. Parkinsonism Relat Disord 2009, 15:471-474.
132. Arnulf I, Leu S, Oudiette D Abnormal sleep and sleepiness in Parkinson's disease. Curr Opin Neurol 2008, 21(4):472-477.
133. Ciafaloni E, Mignot E, Sansone V, et al. The hypocretin neurotransmission system in myotonic dystrophy type 1. Neurology 2008, 70(3):226-230.
134. Martinez-Rodriguez JE, Lin L, Iranzo A, et al. Decreased hypocretin-1 (Orexin-A) levels in the cerebrospinal fluid of patients with myotonic dystrophy and excessive daytime sleepiness. Sleep 2003, 26(3):287-290.
135. Vankova J, Stepanova I, Jech R, et al. Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. Sleep 2003, 26(4):427-430.
136. Vossler DG, Wyler AR, Wilkus RJ, et al. Cataplexy and monoamine oxidase deficiency in Norrie disease. Neurology 1996, 46(5):1258-1261.
137. Tobias ES, Tolmie JL, Stephenson JB Cataplexy in the Prader-Willi syndrome. Arch Dis Child 2002, 87(2):170.
138. Maas AP, Sinnema M, Didden R, et al. Sleep disturbances and behavioural problems in adults with Prader-Willi syndrome. J Intellect Disabil Res 2010, (in press).