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. 1997 Jun;60(6):1289–1302. doi: 10.1086/515487

Genetics of narcolepsy and other sleep disorders.

E Mignot 1
PMCID: PMC1716121  PMID: 9199548

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abe K., Amatomi M., Oda N. Sleepwalking and recurrent sleeptalking in children of childhood sleepwalkers. Am J Psychiatry. 1984 Jun;141(6):800–801. doi: 10.1176/ajp.141.6.800. [DOI] [PubMed] [Google Scholar]
  2. Abe K., Shimakawa M. Genetic and developmental aspects of sleeptalking and teeth-grinding. Acta Paedopsychiatr. 1966 Nov;33(11):339–344. [PubMed] [Google Scholar]
  3. Adickes E. D., Buehler B. A., Sanger W. G. Familial lethal sleep apnea. Hum Genet. 1986 May;73(1):39–43. doi: 10.1007/BF00292662. [DOI] [PubMed] [Google Scholar]
  4. Aldrich M. S. Narcolepsy. Neurology. 1992 Jul;42(7 Suppl 6):34–43. [PubMed] [Google Scholar]
  5. Ambrosetto C., Lugaresi E., Coccagna G., Tassinari C. A. Clinical and polygraphic remarks in the syndrome of restless legs. Riv Patol Nerv Ment. 1965 Apr;86(2):244–252. [PubMed] [Google Scholar]
  6. Angst J., Vollrath M., Koch R., Dobler-Mikola A. The Zurich Study. VII. Insomnia: symptoms, classification and prevalence. Eur Arch Psychiatry Neurol Sci. 1989;238(5-6):285–293. doi: 10.1007/BF00449810. [DOI] [PubMed] [Google Scholar]
  7. Anokhin A., Steinlein O., Fischer C., Mao Y., Vogt P., Schalt E., Vogel F. A genetic study of the human low-voltage electroencephalogram. Hum Genet. 1992 Sep-Oct;90(1-2):99–112. doi: 10.1007/BF00210751. [DOI] [PubMed] [Google Scholar]
  8. Antoch M. P., Song E. J., Chang A. M., Vitaterna M. H., Zhao Y., Wilsbacher L. D., Sangoram A. M., King D. P., Pinto L. H., Takahashi J. S. Functional identification of the mouse circadian Clock gene by transgenic BAC rescue. Cell. 1997 May 16;89(4):655–667. doi: 10.1016/s0092-8674(00)80246-9. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Bell C. C., Dixie-Bell D. D., Thompson B. Further studies on the prevalence of isolated sleep paralysis in black subjects. J Natl Med Assoc. 1986 Jul;78(7):649–659. [PMC free article] [PubMed] [Google Scholar]
  10. Benca R. M., Bergmann B. M., Leung C., Nummy D., Rechtschaffen A. Rat strain differences in response to dark pulse triggering of paradoxical sleep. Physiol Behav. 1991 Jan;49(1):83–87. doi: 10.1016/0031-9384(91)90235-g. [DOI] [PubMed] [Google Scholar]
  11. Billiard M., Pasquié-Magnetto V., Heckman M., Carlander B., Besset A., Zachariev Z., Eliaou J. F., Malafosse A. Family studies in narcolepsy. Sleep. 1994 Dec;17(8 Suppl):S54–S59. doi: 10.1093/sleep/17.suppl_8.s54. [DOI] [PubMed] [Google Scholar]
  12. Broughton R. J. Sleep disorders: disorders of arousal? Enuresis, somnambulism, and nightmares occur in confusional states of arousal, not in "dreaming sleep". Science. 1968 Mar 8;159(3819):1070–1078. doi: 10.1126/science.159.3819.1070. [DOI] [PubMed] [Google Scholar]
  13. Byrne E., White O., Cook M. Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder. J Neurol Neurosurg Psychiatry. 1991 Dec;54(12):1090–1092. doi: 10.1136/jnnp.54.12.1090. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Carlander B., Eliaou J. F., Billiard M. Autoimmune hypothesis in narcolepsy. Neurophysiol Clin. 1993 Jan;23(1):15–22. doi: 10.1016/s0987-7053(05)80279-5. [DOI] [PubMed] [Google Scholar]
  15. Carskadon M. A. Patterns of sleep and sleepiness in adolescents. Pediatrician. 1990;17(1):5–12. [PubMed] [Google Scholar]
  16. Carskadon M. A., Pueschel S. M., Millman R. P. Sleep-disordered breathing and behavior in three risk groups: preliminary findings from parental reports. Childs Nerv Syst. 1993 Dec;9(8):452–457. doi: 10.1007/BF00393547. [DOI] [PubMed] [Google Scholar]
  17. Challamel M. J., Mazzola M. E., Nevsimalova S., Cannard C., Louis J., Revol M. Narcolepsy in children. Sleep. 1994 Dec;17(8 Suppl):S17–S20. doi: 10.1093/sleep/17.suppl_8.s17. [DOI] [PubMed] [Google Scholar]
  18. Chapman J., Arlazoroff A., Goldfarb L. G., Cervenakova L., Neufeld M. Y., Werber E., Herbert M., Brown P., Gajdusek D. C., Korczyn A. D. Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation. Neurology. 1996 Mar;46(3):758–761. doi: 10.1212/wnl.46.3.758. [DOI] [PubMed] [Google Scholar]
  19. Crabbe J. C., Belknap J. K., Buck K. J. Genetic animal models of alcohol and drug abuse. Science. 1994 Jun 17;264(5166):1715–1723. doi: 10.1126/science.8209252. [DOI] [PubMed] [Google Scholar]
  20. DALY D. D., YOSS R. E. A family with narcolepsy. Proc Staff Meet Mayo Clin. 1959 Jun 10;34:313–319. [PubMed] [Google Scholar]
  21. DeFries J. C., Wilson J. R., Erwin V. G., Petersen D. R. LS X SS recombinant inbred strains of mice: initial characterization. Alcohol Clin Exp Res. 1989 Apr;13(2):196–200. doi: 10.1111/j.1530-0277.1989.tb00310.x. [DOI] [PubMed] [Google Scholar]
  22. Debray P., Huon H. A propos de trois cas de somnambulisme familial. Ann Med Interne (Paris) 1973 Jan;124(1):27–29. [PubMed] [Google Scholar]
  23. Dudek B. C., Abbott M. E. A biometrical genetic analysis of ethanol response in selectively bred long-sleep and short-sleep mice. Behav Genet. 1984 Jan;14(1):1–19. doi: 10.1007/BF01066065. [DOI] [PubMed] [Google Scholar]
  24. Dudek B. C., Tritto T. Classical and neoclassical approaches to the genetic analysis of alcohol-related phenotypes. Alcohol Clin Exp Res. 1995 Aug;19(4):802–810. doi: 10.1111/j.1530-0277.1995.tb00950.x. [DOI] [PubMed] [Google Scholar]
  25. Dunlap J. C. Genetic analysis of circadian clocks. Annu Rev Physiol. 1993;55:683–728. doi: 10.1146/annurev.ph.55.030193.003343. [DOI] [PubMed] [Google Scholar]
  26. EKBOM K. A. Restless legs syndrome. Neurology. 1960 Sep;10:868–873. doi: 10.1212/wnl.10.9.868. [DOI] [PubMed] [Google Scholar]
  27. Edgar D. M., Seidel W. F., Martin C. E., Sayeski P. P., Dement W. C. Triazolam fails to induce sleep in suprachiasmatic nucleus-lesioned rats. Neurosci Lett. 1991 Apr 29;125(2):125–128. doi: 10.1016/0304-3940(91)90007-g. [DOI] [PubMed] [Google Scholar]
  28. Erwin V. G., Jones B. C., Radcliffe R. Further characterization of LSxSS recombinant inbred strains of mice: activating and hypothermic effects of ethanol. Alcohol Clin Exp Res. 1990 Apr;14(2):200–204. doi: 10.1111/j.1530-0277.1990.tb00472.x. [DOI] [PubMed] [Google Scholar]
  29. Erwin V. G., Korte A., Jones B. C. Central muscarinic cholinergic influences on ethanol sensitivity in long-sleep and short-sleep mice. J Pharmacol Exp Ther. 1988 Dec;247(3):857–862. [PubMed] [Google Scholar]
  30. Ferini-Strambi L., Calori G., Oldani A., Della Marca G., Zucconi M., Castronovo V., Gallus G., Smirne S. Snoring in twins. Respir Med. 1995 May;89(5):337–340. doi: 10.1016/0954-6111(95)90004-7. [DOI] [PubMed] [Google Scholar]
  31. Fischer H., Oswald H. P., Duba H. C., Doczy L., Simma B., Utermann G., Haas O. A. Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature. Klin Padiatr. 1993 May-Jun;205(3):162–166. [PubMed] [Google Scholar]
  32. Fredrikson S., Carlander B., Billiard M., Link H. CSF immune variables in patients with narcolepsy. Acta Neurol Scand. 1990 Mar;81(3):253–254. doi: 10.1111/j.1600-0404.1990.tb00978.x. [DOI] [PubMed] [Google Scholar]
  33. Friedmann J. K. A diallel analysis of the genetic underpinnings of mouse sleep. Physiol Behav. 1974 Feb;12(2):169–175. doi: 10.1016/0031-9384(74)90169-3. [DOI] [PubMed] [Google Scholar]
  34. GOODE G. B. Sleep paralysis. Arch Neurol. 1962 Mar;6:228–234. doi: 10.1001/archneur.1962.00450210056006. [DOI] [PubMed] [Google Scholar]
  35. Gastaut H., Tassinari C. A., Duron B. Etude polygraphique des manifestations épisodiques (hypniques et respiratoires), diurnes et nocturnes, du syndrome de Pickwick. Rev Neurol (Paris) 1965 Jun;112(6):568–579. [PubMed] [Google Scholar]
  36. Gedda L., Brenci G. Twins living apart test: progress report. Acta Genet Med Gemellol (Roma) 1983;32(1):17–22. doi: 10.1017/s0001566000008114. [DOI] [PubMed] [Google Scholar]
  37. Gelardi J. M., Brown J. W. Hereditary cataplexy. J Neurol Neurosurg Psychiatry. 1967 Oct;30(5):455–457. doi: 10.1136/jnnp.30.5.455. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. George C. F., Singh S. M. Juvenile onset narcolepsy in an individual with Turner syndrome. A case report. Sleep. 1991 Jun;14(3):267–269. [PubMed] [Google Scholar]
  39. Goldberg R., Fish B., Ship A., Shprintzen R. J. Deletion of a portion of the long arm of chromosome 6. Am J Med Genet. 1980;5(1):73–80. doi: 10.1002/ajmg.1320050110. [DOI] [PubMed] [Google Scholar]
  40. Goldfarb L. G., Petersen R. B., Tabaton M., Brown P., LeBlanc A. C., Montagna P., Cortelli P., Julien J., Vital C., Pendelbury W. W. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science. 1992 Oct 30;258(5083):806–808. doi: 10.1126/science.1439789. [DOI] [PubMed] [Google Scholar]
  41. Greenberg F., Guzzetta V., Montes de Oca-Luna R., Magenis R. E., Smith A. C., Richter S. F., Kondo I., Dobyns W. B., Patel P. I., Lupski J. R. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991 Dec;49(6):1207–1218. [PMC free article] [PubMed] [Google Scholar]
  42. Guilleminault C., Eldridge F. L., Simmon F. B., Dement W. C. Sleep apnea syndrome. Can it induce hemodynamic changes? West J Med. 1975 Jul;123(1):7–16. [PMC free article] [PubMed] [Google Scholar]
  43. Guilleminault C., Mignot E., Grumet F. C. Familial patterns of narcolepsy. Lancet. 1989 Dec 9;2(8676):1376–1379. doi: 10.1016/s0140-6736(89)91977-6. [DOI] [PubMed] [Google Scholar]
  44. Guilleminault C., Partinen M., Hollman K., Powell N., Stoohs R. Familial aggregates in obstructive sleep apnea syndrome. Chest. 1995 Jun;107(6):1545–1551. doi: 10.1378/chest.107.6.1545. [DOI] [PubMed] [Google Scholar]
  45. Hall J. C. Are cycling gene products as internal zeitgebers no longer the zeitgeist of chronobiology? Neuron. 1996 Nov;17(5):799–802. doi: 10.1016/s0896-6273(00)80211-1. [DOI] [PubMed] [Google Scholar]
  46. Hall J. C. Tripping along the trail to the molecular mechanisms of biological clocks. Trends Neurosci. 1995 May;18(5):230–240. doi: 10.1016/0166-2236(95)93908-g. [DOI] [PubMed] [Google Scholar]
  47. Hall M. J., Bradley T. D. Cardiovascular disease and sleep apnea. Curr Opin Pulm Med. 1995 Nov;1(6):512–518. doi: 10.1097/00063198-199511000-00014. [DOI] [PubMed] [Google Scholar]
  48. Hartse K. M., Zorick F. J., Sicklesteel J. M., Roth T. Isolated cataplexy: a familial study. Henry Ford Hosp Med J. 1988;36(1):24–27. [PubMed] [Google Scholar]
  49. Heath A. C., Kendler K. S., Eaves L. J., Martin N. G. Evidence for genetic influences on sleep disturbance and sleep pattern in twins. Sleep. 1990 Aug;13(4):318–335. doi: 10.1093/sleep/13.4.318. [DOI] [PubMed] [Google Scholar]
  50. Higurashi M., Kawai H., Segawa M., Iijima K., Ikeda Y., Tanaka F., Egi S., Kamashita S. Growth, psychologic characteristics, and sleep-wakefulness cycle of children with sex chromosomal abnormalities. Birth Defects Orig Artic Ser. 1986;22(3):251–275. [PubMed] [Google Scholar]
  51. Hofstetter J. R., Mayeda A. R., Possidente B., Nurnberger J. I., Jr Quantitative trait loci (QTL) for circadian rhythms of locomotor activity in mice. Behav Genet. 1995 Nov;25(6):545–556. doi: 10.1007/BF02327578. [DOI] [PubMed] [Google Scholar]
  52. Hori A. Sleep characteristics in twins. Jpn J Psychiatry Neurol. 1986 Mar;40(1):35–46. doi: 10.1111/j.1440-1819.1986.tb01610.x. [DOI] [PubMed] [Google Scholar]
  53. Hrubec Z., Robinette C. D. The study of human twins in medical research. N Engl J Med. 1984 Feb 16;310(7):435–441. doi: 10.1056/NEJM198402163100706. [DOI] [PubMed] [Google Scholar]
  54. Hublin C., Kaprio J., Partinen M., Heikkilä K., Koskenvuo M. Prevalence and genetics of sleepwalking: a population-based twin study. Neurology. 1997 Jan;48(1):177–181. doi: 10.1212/wnl.48.1.177. [DOI] [PubMed] [Google Scholar]
  55. Hällström T. Night terror in adults through three generations. Acta Psychiatr Scand. 1972;48(4):350–352. doi: 10.1111/j.1600-0447.1972.tb04375.x. [DOI] [PubMed] [Google Scholar]
  56. Ishikawa A., Miyatake T. A family with hereditary juvenile dystonia-parkinsonism. Mov Disord. 1995 Jul;10(4):482–488. doi: 10.1002/mds.870100413. [DOI] [PubMed] [Google Scholar]
  57. Jacobsen J. H., Rosenberg R. S., Huttenlocher P. R., Spire J. P. Familial nocturnal cramping. Sleep. 1986;9(1):54–60. doi: 10.1093/sleep/9.1.54. [DOI] [PubMed] [Google Scholar]
  58. Julien J., Vital C., Deleplanque B., Lagueny A., Ferrer X. Atrophie thalamique subaiguë familiale. Troubles mnésiques et insomnie totale. Rev Neurol (Paris) 1990;146(3):173–178. [PubMed] [Google Scholar]
  59. Kales A., Soldatos C. R., Bixler E. O., Ladda R. L., Charney D. S., Weber G., Schweitzer P. K. Hereditary factors in sleepwalking and night terrors. Br J Psychiatry. 1980 Aug;137:111–118. doi: 10.1192/bjp.137.2.111. [DOI] [PubMed] [Google Scholar]
  60. Kaplan J., Fredrickson P. A., Richardson J. W. Sleep and breathing in patients with the Prader-Willi syndrome. Mayo Clin Proc. 1991 Nov;66(11):1124–1126. doi: 10.1016/s0025-6196(12)65792-9. [DOI] [PubMed] [Google Scholar]
  61. Kawakami Y., Yamamoto H., Yoshikawa T., Shida A. Chemical and behavioral control of breathing in adult twins. Am Rev Respir Dis. 1984 May;129(5):703–707. doi: 10.1164/arrd.1984.129.5.703. [DOI] [PubMed] [Google Scholar]
  62. Kendler K. S., Heath A. C., Martin N. G., Eaves L. J. Symptoms of anxiety and symptoms of depression. Same genes, different environments? Arch Gen Psychiatry. 1987 May;44(5):451–457. doi: 10.1001/archpsyc.1987.01800170073010. [DOI] [PubMed] [Google Scholar]
  63. Kessler S., Guilleminault C., Dement W. A family study of 50 REM narcoleptics. Acta Neurol Scand. 1974;50(4):503–512. doi: 10.1111/j.1600-0404.1974.tb02796.x. [DOI] [PubMed] [Google Scholar]
  64. Khanna J. M., Kalant H., Shah G., Chau A. Tolerance to ethanol and cross-tolerance to pentobarbital and barbital in four rat strains. Pharmacol Biochem Behav. 1991 Jul;39(3):705–709. doi: 10.1016/0091-3057(91)90151-q. [DOI] [PubMed] [Google Scholar]
  65. King D. P., Zhao Y., Sangoram A. M., Wilsbacher L. D., Tanaka M., Antoch M. P., Steeves T. D., Vitaterna M. H., Kornhauser J. M., Lowrey P. L. Positional cloning of the mouse circadian clock gene. Cell. 1997 May 16;89(4):641–653. doi: 10.1016/s0092-8674(00)80245-7. [DOI] [PMC free article] [PubMed] [Google Scholar]
  66. Kitahama K., Valatx J. L. Instrumental and pharmacological paradoxical sleep deprivation in mice: strain differences. Neuropharmacology. 1980 Jun;19(6):529–535. doi: 10.1016/0028-3908(80)90022-2. [DOI] [PubMed] [Google Scholar]
  67. Koskenvuo M., Kaprio J., Partinen M., Langinvainio H., Sarna S., Heikkilä K. Snoring as a risk factor for hypertension and angina pectoris. Lancet. 1985 Apr 20;1(8434):893–896. doi: 10.1016/s0140-6736(85)91672-1. [DOI] [PubMed] [Google Scholar]
  68. Kronholm E., Aunola S., Hyyppä M. T., Kaitsaari M., Koskenvuo M., Mattlar C. E., Rönnemaa T. Sleep in monozygotic twin pairs discordant for obesity. J Appl Physiol (1985) 1996 Jan;80(1):14–19. doi: 10.1152/jappl.1996.80.1.14. [DOI] [PubMed] [Google Scholar]
  69. Kushida C. A., Bergmann B. M., Rechtschaffen A. Sleep deprivation in the rat: IV. Paradoxical sleep deprivation. Sleep. 1989 Feb;12(1):22–30. doi: 10.1093/sleep/12.1.22. [DOI] [PubMed] [Google Scholar]
  70. Lavie P., Peled R. Narcolepsy is a rare disease in Israel. Sleep. 1987 Dec;10(6):608–609. [PubMed] [Google Scholar]
  71. Lavigne G. J., Montplaisir J. Y. Restless legs syndrome and sleep bruxism: prevalence and association among Canadians. Sleep. 1994 Dec;17(8):739–743. [PubMed] [Google Scholar]
  72. Leung C., Bergmann B. M., Rechtschaffen A., Benca R. M. Heritability of dark pulse triggering of paradoxical sleep in rats. Physiol Behav. 1992 Jul;52(1):127–131. doi: 10.1016/0031-9384(92)90441-4. [DOI] [PubMed] [Google Scholar]
  73. Linkowski P., Kerkhofs M., Hauspie R., Mendlewicz J. Genetic determinants of EEG sleep: a study in twins living apart. Electroencephalogr Clin Neurophysiol. 1991 Aug;79(2):114–118. doi: 10.1016/0013-4694(91)90048-9. [DOI] [PubMed] [Google Scholar]
  74. Linkowski P., Kerkhofs M., Hauspie R., Susanne C., Mendlewicz J. EEG sleep patterns in man: a twin study. Electroencephalogr Clin Neurophysiol. 1989 Oct;73(4):279–284. doi: 10.1016/0013-4694(89)90106-5. [DOI] [PubMed] [Google Scholar]
  75. Linkowski P., Kerkhofs M., Van Cauter E. Sleep and biological rhythms in man: a twin study. Clin Neuropharmacol. 1992;15 (Suppl 1 Pt A):42A–43A. doi: 10.1097/00002826-199201001-00024. [DOI] [PubMed] [Google Scholar]
  76. Linkowski P., Van Onderbergen A., Kerkhofs M., Bosson D., Mendlewicz J., Van Cauter E. Twin study of the 24-h cortisol profile: evidence for genetic control of the human circadian clock. Am J Physiol. 1993 Feb;264(2 Pt 1):E173–E181. doi: 10.1152/ajpendo.1993.264.2.E173. [DOI] [PubMed] [Google Scholar]
  77. Lugaresi E., Medori R., Montagna P., Baruzzi A., Cortelli P., Lugaresi A., Tinuper P., Zucconi M., Gambetti P. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med. 1986 Oct 16;315(16):997–1003. doi: 10.1056/NEJM198610163151605. [DOI] [PubMed] [Google Scholar]
  78. Lugaresi E. The thalamus and insomnia. Neurology. 1992 Jul;42(7 Suppl 6):28–33. [PubMed] [Google Scholar]
  79. Lê A. D., Khanna J. M., Kalant H. Effects of chronic treatment with ethanol on the development of cross-tolerance to other alcohols and pentobarbital. J Pharmacol Exp Ther. 1992 Nov;263(2):480–485. [PubMed] [Google Scholar]
  80. Manetto V., Medori R., Cortelli P., Montagna P., Tinuper P., Baruzzi A., Rancurel G., Hauw J. J., Vanderhaeghen J. J., Mailleux P. Fatal familial insomnia: clinical and pathologic study of five new cases. Neurology. 1992 Feb;42(2):312–319. doi: 10.1212/wnl.42.2.312. [DOI] [PubMed] [Google Scholar]
  81. Manni R., Zucca C., Martinetti M., Ottolini A., Lanzi G., Tartara A. Hypersomnia in dystrophia myotonica: a neurophysiological and immunogenetic study. Acta Neurol Scand. 1991 Dec;84(6):498–502. doi: 10.1111/j.1600-0404.1991.tb05002.x. [DOI] [PubMed] [Google Scholar]
  82. Manon-Espaillat R., Gothe B., Adams N., Newman C., Ruff R. Familial 'sleep apnea plus' syndrome: report of a family. Neurology. 1988 Feb;38(2):190–193. doi: 10.1212/wnl.38.2.190. [DOI] [PubMed] [Google Scholar]
  83. Markel P. D., Fulker D. W., Bennett B., Corley R. P., DeFries J. C., Erwin V. G., Johnson T. E. Quantitative trait loci for ethanol sensitivity in the LS x SS recombinant inbred strains: interval mapping. Behav Genet. 1996 Jul;26(4):447–458. doi: 10.1007/BF02359489. [DOI] [PubMed] [Google Scholar]
  84. Marley R. J., Freund R. K., Wehner J. M. Differential response to flurazepam in long-sleep and short-sleep mice. Pharmacol Biochem Behav. 1988 Oct;31(2):453–458. doi: 10.1016/0091-3057(88)90373-5. [DOI] [PubMed] [Google Scholar]
  85. Mathur R., Douglas N. J. Family studies in patients with the sleep apnea-hypopnea syndrome. Ann Intern Med. 1995 Feb 1;122(3):174–178. doi: 10.7326/0003-4819-122-3-199502010-00003. [DOI] [PubMed] [Google Scholar]
  86. Matsuki K., Grumet F. C., Lin X., Gelb M., Guilleminault C., Dement W. C., Mignot E. DQ (rather than DR) gene marks susceptibility to narcolepsy. Lancet. 1992 Apr 25;339(8800):1052–1052. doi: 10.1016/0140-6736(92)90571-j. [DOI] [PubMed] [Google Scholar]
  87. Mayeda A. R., Hofstetter J. R., Belknap J. K., Nurnberger J. I., Jr Hypothetical quantitative trait loci (QTL) for circadian period of locomotor activity in CXB recombinant inbred strains of mice. Behav Genet. 1996 Sep;26(5):505–511. doi: 10.1007/BF02359755. [DOI] [PubMed] [Google Scholar]
  88. Melberg A., Hetta J., Dahl N., Nennesmo I., Bengtsson M., Wibom R., Grant C., Gustavson K. H., Lundberg P. O. Autosomal dominant cerebellar ataxia deafness and narcolepsy. J Neurol Sci. 1995 Dec;134(1-2):119–129. doi: 10.1016/0022-510x(95)00228-0. [DOI] [PubMed] [Google Scholar]
  89. Mestel R. Putting prions to the test. Science. 1996 Jul 12;273(5272):184–189. doi: 10.1126/science.273.5272.184. [DOI] [PubMed] [Google Scholar]
  90. Mignot E., Kimura A., Lattermann A., Lin X., Yasunaga S., Mueller-Eckhardt G., Rattazzi C., Lin L., Guilleminault C., Grumet F. C. Extensive HLA class II studies in 58 non-DRB1*15 (DR2) narcoleptic patients with cataplexy. Tissue Antigens. 1997 Apr;49(4):329–341. doi: 10.1111/j.1399-0039.1997.tb02761.x. [DOI] [PubMed] [Google Scholar]
  91. Mignot E., Tafti M., Dement W. C., Grumet F. C. Narcolepsy and immunity. Adv Neuroimmunol. 1995;5(1):23–37. doi: 10.1016/0960-5428(94)00043-n. [DOI] [PubMed] [Google Scholar]
  92. Mignot E., Wang C., Rattazzi C., Gaiser C., Lovett M., Guilleminault C., Dement W. C., Grumet F. C. Genetic linkage of autosomal recessive canine narcolepsy with a mu immunoglobulin heavy-chain switch-like segment. Proc Natl Acad Sci U S A. 1991 Apr 15;88(8):3475–3478. doi: 10.1073/pnas.88.8.3475. [DOI] [PMC free article] [PubMed] [Google Scholar]
  93. Millar A. J., Carré I. A., Strayer C. A., Chua N. H., Kay S. A. Circadian clock mutants in Arabidopsis identified by luciferase imaging. Science. 1995 Feb 24;267(5201):1161–1163. doi: 10.1126/science.7855595. [DOI] [PubMed] [Google Scholar]
  94. Montplaisir J., Godbout R., Boghen D., DeChamplain J., Young S. N., Lapierre G. Familial restless legs with periodic movements in sleep: electrophysiologic, biochemical, and pharmacologic study. Neurology. 1985 Jan;35(1):130–134. doi: 10.1212/wnl.35.1.130. [DOI] [PubMed] [Google Scholar]
  95. Morzorati S., Lamishaw B., Lumeng L., Li T. K., Bemis K., Clemens J. Effect of low dose ethanol on the EEG of alcohol-preferring and -nonpreferring rats. Brain Res Bull. 1988 Jul;21(1):101–104. doi: 10.1016/0361-9230(88)90124-4. [DOI] [PubMed] [Google Scholar]
  96. Nevsímalová-Brůhová S. On the problem of heredity in hypersomnia, narcolepsy and dissociated sleep disturbances. Acta Univ Carol Med (Praha) 1973;19(1-2):109–160. [PubMed] [Google Scholar]
  97. O'Hare J. P., O'Brien I. A., Arendt J., Astley P., Ratcliffe W., Andrews H., Walters R., Corrall R. J. Does melatonin deficiency cause the enlarged genitalia of the fragile-X syndrome? Clin Endocrinol (Oxf) 1986 Mar;24(3):327–333. doi: 10.1111/j.1365-2265.1986.tb03274.x. [DOI] [PubMed] [Google Scholar]
  98. Ohayon M. M., Priest R. G., Caulet M., Guilleminault C. Hypnagogic and hypnopompic hallucinations: pathological phenomena? Br J Psychiatry. 1996 Oct;169(4):459–467. doi: 10.1192/bjp.169.4.459. [DOI] [PubMed] [Google Scholar]
  99. Oren J., Kelly D. H., Shannon D. C. Familial occurrence of sudden infant death syndrome and apnea of infancy. Pediatrics. 1987 Sep;80(3):355–358. [PubMed] [Google Scholar]
  100. Overstreet D. H., Rezvani A. H., Janowsky D. S. Increased hypothermic responses to ethanol in rats selectively bred for cholinergic supersensitivity. Alcohol Alcohol. 1990;25(1):59–65. [PubMed] [Google Scholar]
  101. Partinen M., Kaprio J., Koskenvuo M., Putkonen P., Langinvainio H. Genetic and environmental determination of human sleep. Sleep. 1983;6(3):179–185. doi: 10.1093/sleep/6.3.179. [DOI] [PubMed] [Google Scholar]
  102. Petersen R. B., Parchi P., Richardson S. L., Urig C. B., Gambetti P. Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein. J Biol Chem. 1996 May 24;271(21):12661–12668. doi: 10.1074/jbc.271.21.12661. [DOI] [PubMed] [Google Scholar]
  103. Phillips T. J., Dudek B. C. Locomotor activity responses to ethanol in selectively bred long- and short-sleep mice, two inbred mouse strains, and their F1 hybrids. Alcohol Clin Exp Res. 1991 Mar;15(2):255–261. doi: 10.1111/j.1530-0277.1991.tb01866.x. [DOI] [PubMed] [Google Scholar]
  104. Phillips T. J., Feller D. J., Crabbe J. C. Selected mouse lines, alcohol and behavior. Experientia. 1989 Sep 15;45(9):805–827. doi: 10.1007/BF01954056. [DOI] [PubMed] [Google Scholar]
  105. Pillar G., Lavie P. Assessment of the role of inheritance in sleep apnea syndrome. Am J Respir Crit Care Med. 1995 Mar;151(3 Pt 1):688–691. doi: 10.1164/ajrccm/151.3_Pt_1.688. [DOI] [PubMed] [Google Scholar]
  106. Poirier G., Montplaisir J., Décary F., Momège D., Lebrun A. HLA antigens in narcolepsy and idiopathic central nervous system hypersomnolence. Sleep. 1986;9(1 Pt 2):153–158. doi: 10.1093/sleep/9.1.153. [DOI] [PubMed] [Google Scholar]
  107. Prusiner S. B. Molecular biology of prion diseases. Science. 1991 Jun 14;252(5012):1515–1522. doi: 10.1126/science.1675487. [DOI] [PubMed] [Google Scholar]
  108. Ralph M. R., Menaker M. A mutation of the circadian system in golden hamsters. Science. 1988 Sep 2;241(4870):1225–1227. doi: 10.1126/science.3413487. [DOI] [PubMed] [Google Scholar]
  109. Rechtschaffen A., Gilliland M. A., Bergmann B. M., Winter J. B. Physiological correlates of prolonged sleep deprivation in rats. Science. 1983 Jul 8;221(4606):182–184. doi: 10.1126/science.6857280. [DOI] [PubMed] [Google Scholar]
  110. Redline S., Tishler P. V., Hans M. G., Tosteson T. D., Strohl K. P., Spry K. Racial differences in sleep-disordered breathing in African-Americans and Caucasians. Am J Respir Crit Care Med. 1997 Jan;155(1):186–192. doi: 10.1164/ajrccm.155.1.9001310. [DOI] [PubMed] [Google Scholar]
  111. Redline S., Tishler P. V., Tosteson T. D., Williamson J., Kump K., Browner I., Ferrette V., Krejci P. The familial aggregation of obstructive sleep apnea. Am J Respir Crit Care Med. 1995 Mar;151(3 Pt 1):682–687. doi: 10.1164/ajrccm/151.3_Pt_1.682. [DOI] [PubMed] [Google Scholar]
  112. Roehrs T., Zwyghuizen-Doorenbos A., Timms V., Zorick F., Roth T. Sleep extension, enhanced alertness and the sedating effects of ethanol. Pharmacol Biochem Behav. 1989 Oct;34(2):321–324. doi: 10.1016/0091-3057(89)90319-5. [DOI] [PubMed] [Google Scholar]
  113. Roemer K., Johnson P. A., Friedmann T. Knock-in and knock-out. Transgenes, Development and Disease: A Keystone Symposium sponsored by Genentech and Immunex, Tamarron, CO, USA, January 12-18, 1991. New Biol. 1991 Apr;3(4):331–335. [PubMed] [Google Scholar]
  114. Rogers A. E., Meehan J., Guilleminault C., Grumet F. C., Mignot E. HLA DR15 (DR2) and DQB1*0602 typing studies in 188 narcoleptic patients with cataplexy. Neurology. 1997 Jun;48(6):1550–1556. doi: 10.1212/wnl.48.6.1550. [DOI] [PubMed] [Google Scholar]
  115. Rosenberg R. S., Bergmann B. M., Son H. J., Arnason B. G., Rechtschaffen A. Strain differences in the sleep of rats. Sleep. 1987 Dec;10(6):537–541. [PubMed] [Google Scholar]
  116. Roth B., Buůhová S., Berková L. Familial sleep paralysis. Schweiz Arch Neurol Neurochir Psychiatr. 1968;102(2):321–330. [PubMed] [Google Scholar]
  117. Rubin R. L., Hajdukovich R. M., Mitler M. M. HLA-DR2 association with excessive somnolence in narcolepsy does not generalize to sleep apnea and is not accompanied by systemic autoimmune abnormalities. Clin Immunol Immunopathol. 1988 Oct;49(1):149–158. doi: 10.1016/0090-1229(88)90104-3. [DOI] [PubMed] [Google Scholar]
  118. Schenck C. H., Garcia-Rill E., Segall M., Noreen H., Mahowald M. W. HLA class II genes associated with REM sleep behavior disorder. Ann Neurol. 1996 Feb;39(2):261–263. doi: 10.1002/ana.410390216. [DOI] [PubMed] [Google Scholar]
  119. Schwartz W. J., Zimmerman P. Circadian timekeeping in BALB/c and C57BL/6 inbred mouse strains. J Neurosci. 1990 Nov;10(11):3685–3694. doi: 10.1523/JNEUROSCI.10-11-03685.1990. [DOI] [PMC free article] [PubMed] [Google Scholar]
  120. Sehgal A., Ousley A., Hunter-Ensor M. Control of circadian rhythms by a two-component clock. Mol Cell Neurosci. 1996 Mar;7(3):165–172. doi: 10.1006/mcne.1996.0013. [DOI] [PubMed] [Google Scholar]
  121. Shiromani P. J., Velazquez-Moctezuma J., Overstreet D., Shalauta M., Lucero S., Floyd C. Effects of sleep deprivation on sleepiness and increased REM sleep in rats selectively bred for cholinergic hyperactivity. Sleep. 1991 Apr;14(2):116–120. [PubMed] [Google Scholar]
  122. Singh S. M., George C. F., Kryger M. H., Jung J. H. Genetic heterogeneity in narcolepsy. Lancet. 1990 Mar 24;335(8691):726–727. doi: 10.1016/0140-6736(90)90842-s. [DOI] [PubMed] [Google Scholar]
  123. Steinlein O., Anokhin A., Yping M., Schalt E., Vogel F. Localization of a gene for the human low-voltage EEG on 20q and genetic heterogeneity. Genomics. 1992 Jan;12(1):69–73. doi: 10.1016/0888-7543(92)90408-k. [DOI] [PubMed] [Google Scholar]
  124. Stino F. K. Divergent selection for pentobarbital-induced sleeping times in mice. Pharmacology. 1992;44(5):257–259. doi: 10.1159/000138927. [DOI] [PubMed] [Google Scholar]
  125. Strang R. R. The symptom of restless legs. Med J Aust. 1967 Jun 17;1(24):1211–1213. doi: 10.5694/j.1326-5377.1967.tb73929.x. [DOI] [PubMed] [Google Scholar]
  126. Strohl K. P., Saunders N. A., Feldman N. T., Hallett M. Obstructive sleep apnea in family members. N Engl J Med. 1978 Nov 2;299(18):969–973. doi: 10.1056/NEJM197811022991801. [DOI] [PubMed] [Google Scholar]
  127. Summers J. A., Lynch P. S., Harris J. C., Burke J. C., Allison D. B., Sandler L. A combined behavioral/pharmacological treatment of sleep-wake schedule disorder in Angelman syndrome. J Dev Behav Pediatr. 1992 Aug;13(4):284–287. [PubMed] [Google Scholar]
  128. Tafti M., Nishino S., Aldrich M. S., Liao W., Dement W. C., Mignot E. Major histocompatibility class II molecules in the CNS: increased microglial expression at the onset of narcolepsy in canine model. J Neurosci. 1996 Aug 1;16(15):4588–4595. doi: 10.1523/JNEUROSCI.16-15-04588.1996. [DOI] [PMC free article] [PubMed] [Google Scholar]
  129. Takahashi J. S. Molecular neurobiology and genetics of circadian rhythms in mammals. Annu Rev Neurosci. 1995;18:531–553. doi: 10.1146/annurev.ne.18.030195.002531. [DOI] [PubMed] [Google Scholar]
  130. Takahashi J. S., Pinto L. H., Vitaterna M. H. Forward and reverse genetic approaches to behavior in the mouse. Science. 1994 Jun 17;264(5166):1724–1733. doi: 10.1126/science.8209253. [DOI] [PMC free article] [PubMed] [Google Scholar]
  131. Thomas D. A., Swaminathan S., Beardsmore C. S., McArdle E. K., MacFadyen U. M., Goodenough P. C., Carpenter R., Simpson H. Comparison of peripheral chemoreceptor responses in monozygotic and dizygotic twin infants. Am Rev Respir Dis. 1993 Dec;148(6 Pt 1):1605–1609. doi: 10.1164/ajrccm/148.6_Pt_1.1605. [DOI] [PubMed] [Google Scholar]
  132. Tishler P. V., Redline S., Ferrette V., Hans M. G., Altose M. D. The association of sudden unexpected infant death with obstructive sleep apnea. Am J Respir Crit Care Med. 1996 Jun;153(6 Pt 1):1857–1863. doi: 10.1164/ajrccm.153.6.8665046. [DOI] [PubMed] [Google Scholar]
  133. Tobler I., Gaus S. E., Deboer T., Achermann P., Fischer M., Rülicke T., Moser M., Oesch B., McBride P. A., Manson J. C. Altered circadian activity rhythms and sleep in mice devoid of prion protein. Nature. 1996 Apr 18;380(6575):639–642. doi: 10.1038/380639a0. [DOI] [PubMed] [Google Scholar]
  134. Todd J. A., Aitman T. J., Cornall R. J., Ghosh S., Hall J. R., Hearne C. M., Knight A. M., Love J. M., McAleer M. A., Prins J. B. Genetic analysis of autoimmune type 1 diabetes mellitus in mice. Nature. 1991 Jun 13;351(6327):542–547. doi: 10.1038/351542a0. [DOI] [PubMed] [Google Scholar]
  135. Travis J. Scoring a technical knockout in mice. Science. 1992 Jun 5;256(5062):1392–1394. doi: 10.1126/science.1351316. [DOI] [PubMed] [Google Scholar]
  136. Trenkwalder C., Seidel V. C., Gasser T., Oertel W. H. Clinical symptoms and possible anticipation in a large kindred of familial restless legs syndrome. Mov Disord. 1996 Jul;11(4):389–394. doi: 10.1002/mds.870110407. [DOI] [PubMed] [Google Scholar]
  137. Valatx J. L., Bugat R. Facteurs génétiques dans le déterminisme du cycle veille-sommeil chez la souris. Brain Res. 1974 Apr 5;69(2):315–330. doi: 10.1016/0006-8993(74)90009-2. [DOI] [PubMed] [Google Scholar]
  138. Valatx J. L., Bugat R., Jouvet M. Genetic studies of sleep in mice. Nature. 1972 Jul 28;238(5361):226–227. doi: 10.1038/238226a0. [DOI] [PubMed] [Google Scholar]
  139. Van Twyver H., Webb W. B., Dube M., Zackheim M. Effects of environmental and strain differences on EEG and behavioral measurement of sleep. Behav Biol. 1973 Jul;9(1):105–110. doi: 10.1016/s0091-6773(73)80173-7. [DOI] [PubMed] [Google Scholar]
  140. Vgontzas A. N., Kales A., Seip J., Mascari M. J., Bixler E. O., Myers D. C., Vela-Bueno A. V., Rogan P. K. Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome. Am J Med Genet. 1996 Sep 20;67(5):478–482. doi: 10.1002/(SICI)1096-8628(19960920)67:5<478::AID-AJMG7>3.0.CO;2-G. [DOI] [PubMed] [Google Scholar]
  141. Vitaterna M. H., King D. P., Chang A. M., Kornhauser J. M., Lowrey P. L., McDonald J. D., Dove W. F., Pinto L. H., Turek F. W., Takahashi J. S. Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior. Science. 1994 Apr 29;264(5159):719–725. doi: 10.1126/science.8171325. [DOI] [PMC free article] [PubMed] [Google Scholar]
  142. Vossler D. G., Wyler A. R., Wilkus R. J., Gardner-Walker G., Vlcek B. W. Cataplexy and monoamine oxidase deficiency in Norrie disease. Neurology. 1996 May;46(5):1258–1261. doi: 10.1212/wnl.46.5.1258. [DOI] [PubMed] [Google Scholar]
  143. Walters A. S., Picchietti D. L., Ehrenberg B. L., Wagner M. L. Restless legs syndrome in childhood and adolescence. Pediatr Neurol. 1994 Oct;11(3):241–245. doi: 10.1016/0887-8994(94)90110-4. [DOI] [PubMed] [Google Scholar]
  144. Walters A. S., Picchietti D., Hening W., Lazzarini A. Variable expressivity in familial restless legs syndrome. Arch Neurol. 1990 Nov;47(11):1219–1220. doi: 10.1001/archneur.1990.00530110079020. [DOI] [PubMed] [Google Scholar]
  145. Walters A. S. Toward a better definition of the restless legs syndrome. The International Restless Legs Syndrome Study Group. Mov Disord. 1995 Sep;10(5):634–642. doi: 10.1002/mds.870100517. [DOI] [PubMed] [Google Scholar]
  146. Webb W. B., Campbell S. S. Relationships in sleep characteristics of identical and fraternal twins. Arch Gen Psychiatry. 1983 Oct;40(10):1093–1095. doi: 10.1001/archpsyc.1983.01790090055008. [DOI] [PubMed] [Google Scholar]
  147. Webb W. B., Friedman J. Attempts to modify the sleep patterns of the rat. Physiol Behav. 1971 Apr;6(4):459–460. doi: 10.1016/0031-9384(71)90183-1. [DOI] [PubMed] [Google Scholar]
  148. Wehner J. M., Pounder J. I., Parham C., Collins A. C. A recombinant inbred strain analysis of sleep-time responses to several sedative-hypnotics. Alcohol Clin Exp Res. 1992 Jun;16(3):522–528. doi: 10.1111/j.1530-0277.1992.tb01410.x. [DOI] [PubMed] [Google Scholar]
  149. Weissmann C. A 'unified theory' of prion propagation. Nature. 1991 Aug 22;352(6337):679–683. doi: 10.1038/352679a0. [DOI] [PubMed] [Google Scholar]
  150. Wittig R. M., Zorick F. J., Roehrs T. A., Sicklesteel J. M., Roth T. Familial childhood sleep apnea. Henry Ford Hosp Med J. 1988;36(1):13–15. [PubMed] [Google Scholar]
  151. Yoshizawa T., Akashiba T., Kurashina K., Otsuka K., Horie T. Genetics and obstructive sleep apnea syndrome: a study of human leukocyte antigen (HLA) typing. Intern Med. 1993 Feb;32(2):94–97. doi: 10.2169/internalmedicine.32.94. [DOI] [PubMed] [Google Scholar]
  152. 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 Apr 29;328(17):1230–1235. doi: 10.1056/NEJM199304293281704. [DOI] [PubMed] [Google Scholar]
  153. Zwyghuizen-Doorenbos A., Roehrs T., Timms V., Roth T. Individual differences in the sedating effects of ethanol. Alcohol Clin Exp Res. 1990 Jun;14(3):400–404. doi: 10.1111/j.1530-0277.1990.tb00494.x. [DOI] [PubMed] [Google Scholar]
  154. de Fiebre C. M., Collins A. C. Classical genetic analyses of responses to nicotine and ethanol in crosses derived from long- and short-sleep mice. J Pharmacol Exp Ther. 1992 Apr;261(1):173–180. [PubMed] [Google Scholar]
  155. de Fiebre C. M., Marley R. J., Miner L. L., de Fiebre N. E., Wehner J. M., Collins A. C. Classical genetic analyses of responses to sedative-hypnotic drugs in crosses derived from long-sleep and short-sleep mice. Alcohol Clin Exp Res. 1992 Jun;16(3):511–521. doi: 10.1111/j.1530-0277.1992.tb01409.x. [DOI] [PubMed] [Google Scholar]
  156. el Bayadi S., Millman R. P., Tishler P. V., Rosenberg C., Saliski W., Boucher M. A., Redline S. A family study of sleep apnea. Anatomic and physiologic interactions. Chest. 1990 Sep;98(3):554–559. doi: 10.1378/chest.98.3.554. [DOI] [PubMed] [Google Scholar]
  157. van Beijsterveldt C. E., Molenaar P. C., de Geus E. J., Boomsma D. I. Heritability of human brain functioning as assessed by electroencephalography. Am J Hum Genet. 1996 Mar;58(3):562–573. [PMC free article] [PubMed] [Google Scholar]

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