Narcolepsy

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/narcolepsy

Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.

genetic conditions

References

Cvetkovic-Lopes V, Bayer L, Dorsaz S, Maret S, Pradervand S, Dauvilliers Y,Lecendreux M, Lammers GJ, Donjacour CE, Du Pasquier RA, Pfister C, Petit B, HorH, Mühlethaler M, Tafti M. Elevated Tribbles homolog 2-specific antibody levelsin narcolepsy patients. J Clin Invest. 2010 Mar;120(3):713-9. doi:10.1172/JCI41366.
Dauvilliers Y, Arnulf I, Mignot E. Narcolepsy with cataplexy. Lancet. 2007 Feb10;369(9560):499-511. Review.
Dauvilliers Y, Montplaisir J, Cochen V, Desautels A, Einen M, Lin L, KawashimaM, Bayard S, Monaca C, Tiberge M, Filipini D, Tripathy A, Nguyen BH, Kotagal S,Mignot E. Post-H1N1 narcolepsy-cataplexy. Sleep. 2010 Nov;33(11):1428-30.
Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G,Plazzi G, Nevsimalova S, Bourgin P, Hong SC, Honda Y, Honda M, Högl B, LongstrethWT Jr, Montplaisir J, Kemlink D, Einen M, Chen J, Musone SL, Akana M, Miyagawa T,Duan J, Desautels A, Erhardt C, Hesla PE, Poli F, Frauscher B, Jeong JH, Lee SP, Ton TG, Kvale M, Kolesar L, Dobrovolná M, Nepom GT, Salomon D, Wichmann HE,Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Young T, Peppard P,Tokunaga K, Kwok PY, Risch N, Mignot E. Narcolepsy is strongly associated withthe T-cell receptor alpha locus. Nat Genet. 2009 Jun;41(6):708-11. doi:10.1038/ng.372.Sheng Seung-Chul [corrected to Hong, Seung-Chul].
Hohjoh H, Terada N, Kawashima M, Honda Y, Tokunaga K. Significant association of the tumor necrosis factor receptor 2 (TNFR2) gene with human narcolepsy.Tissue Antigens. 2000 Nov;56(5):446-8.
Hor H, Kutalik Z, Dauvilliers Y, Valsesia A, Lammers GJ, Donjacour CE, Iranzo A, Santamaria J, Peraita Adrados R, Vicario JL, Overeem S, Arnulf I, Theodorou I,Jennum P, Knudsen S, Bassetti C, Mathis J, Lecendreux M, Mayer G, Geisler P,Benetó A, Petit B, Pfister C, Bürki JV, Didelot G, Billiard M, Ercilla G,Verduijn W, Claas FH, Vollenweider P, Waeber G, Waterworth DM, Mooser V, Heinzer R, Beckmann JS, Bergmann S, Tafti M. Genome-wide association study identifies newHLA class II haplotypes strongly protective against narcolepsy. Nat Genet. 2010Sep;42(9):786-9. doi: 10.1038/ng.647.2011 Apr;43(4):388. Vollenwider, Peter [corrected to Vollenweider, Peter].
Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC,Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X,Winkelmann J, Plazzi G, Nevsimalova S, Hong SC, Honda Y, Honda M, Högl B, Ton TG,Montplaisir J, Bourgin P, Kemlink D, Huang YS, Warby S, Einen M, Eshragh JL,Miyagawa T, Desautels A, Ruppert E, Hesla PE, Poli F, Pizza F, Frauscher B, JeongJH, Lee SP, Strohl KP, Longstreth WT Jr, Kvale M, Dobrovolna M, Ohayon MM, Nepom GT, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T,Peppard P, Young T, Jennum P, Steinman L, Tokunaga K, Kwok PY, Risch N, HallmayerJ, Mignot E. Common variants in P2RY11 are associated with narcolepsy. Nat Genet.2011 Jan;43(1):66-71. doi: 10.1038/ng.734.Genet. 2011 Oct;43(10):1040.
Mieda M. The roles of orexins in sleep/wake regulation. Neurosci Res. 2017May;118:56-65. doi: 10.1016/j.neures.2017.03.015.
Mignot E, Lin L, Rogers W, Honda Y, Qiu X, Lin X, Okun M, Hohjoh H, Miki T,Hsu S, Leffell M, Grumet F, Fernandez-Vina M, Honda M, Risch N. Complex HLA-DRand -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet. 2001 Mar;68(3):686-99.
Miyagawa T, Kawashima M, Nishida N, Ohashi J, Kimura R, Fujimoto A, Shimada M,Morishita S, Shigeta T, Lin L, Hong SC, Faraco J, Shin YK, Jeong JH, Okazaki Y,Tsuji S, Honda M, Honda Y, Mignot E, Tokunaga K. Variant between CPT1B and CHKBassociated with susceptibility to narcolepsy. Nat Genet. 2008 Nov;40(11):1324-8. doi: 10.1038/ng.231.
Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S,Aldrich M, Reynolds D, Albin R, Li R, Hungs M, Pedrazzoli M, Padigaru M,Kucherlapati M, Fan J, Maki R, Lammers GJ, Bouras C, Kucherlapati R, Nishino S,Mignot E. A mutation in a case of early onset narcolepsy and a generalizedabsence of hypocretin peptides in human narcoleptic brains. Nat Med. 2000Sep;6(9):991-7.
Scammell TE. Narcolepsy. N Engl J Med. 2015 Dec 31;373(27):2654-62. doi:10.1056/NEJMra1500587. Review.

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