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Narcolepsy 4, susceptibility to(NRCLP4)

MedGen UID:
391001
Concept ID:
C2676275
Disease or Syndrome
Synonym: NRCLP4
 
Monarch Initiative: MONDO:0012898
OMIM®: 612417

Definition

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.

Narcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.

Another common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.

Narcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.

Some people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Dauvilliers Y, Tafti M
Ann Med 2006;38(4):252-62. doi: 10.1080/07853890500489700. PMID: 16754256
Tafti M, Dauvilliers Y
Pharmacogenomics 2003 Jan;4(1):23-33. doi: 10.1517/phgs.4.1.23.22590. PMID: 12517283

Recent clinical studies

Etiology

Gool JK, Zhang Z, Fronczek R, Amesz P, Khatami R, Lammers GJ
Sleep Med 2024 Apr;116:105-114. Epub 2024 Feb 29 doi: 10.1016/j.sleep.2024.02.033. PMID: 38442518
Fournier S, Dauvilliers Y, Warby SC, Labrecque M, Zadra A, Boucetta S, El Gewely M, Kaddioui H, Lopez R, Montplaisir JY, Bareke E, Tétreault M, Desautels A
J Sleep Res 2022 Aug;31(4):e13537. Epub 2021 Dec 15 doi: 10.1111/jsr.13537. PMID: 34913218
Schirinzi T, Landi D, Liguori C
J Neurol 2021 Apr;268(4):1171-1178. Epub 2020 Aug 27 doi: 10.1007/s00415-020-10131-y. PMID: 32852580Free PMC Article
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
Nat Genet 2008 Nov;40(11):1324-8. Epub 2008 Sep 28 doi: 10.1038/ng.231. PMID: 18820697
Chabas D, Taheri S, Renier C, Mignot E
Annu Rev Genomics Hum Genet 2003;4:459-83. doi: 10.1146/annurev.genom.4.070802.110432. PMID: 14527309

Diagnosis

Gool JK, Zhang Z, Fronczek R, Amesz P, Khatami R, Lammers GJ
Sleep Med 2024 Apr;116:105-114. Epub 2024 Feb 29 doi: 10.1016/j.sleep.2024.02.033. PMID: 38442518
Kachooei-Mohaghegh-Yaghoobi L, Rezaei-Rad F, Sadeghniiat-Haghighi K, Zamani M
Int J Neurosci 2022 Jul;132(7):706-713. Epub 2020 Oct 22 doi: 10.1080/00207454.2020.1835903. PMID: 33045884
Schirinzi T, Landi D, Liguori C
J Neurol 2021 Apr;268(4):1171-1178. Epub 2020 Aug 27 doi: 10.1007/s00415-020-10131-y. PMID: 32852580Free PMC Article
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G
Brain 2014 Jun;137(Pt 6):1643-55. Epub 2014 Apr 10 doi: 10.1093/brain/awu069. PMID: 24727570
Lecendreux M, Bassetti C, Dauvilliers Y, Mayer G, Neidhart E, Tafti M
Mol Psychiatry 2003 Jan;8(1):114-7. doi: 10.1038/sj.mp.4001203. PMID: 12556916

Therapy

Hallberg P, Smedje H, Eriksson N, Kohnke H, Daniilidou M, Öhman I, Yue QY, Cavalli M, Wadelius C, Magnusson PKE, Landtblom AM, Wadelius M; Swedegene
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Miyagawa T, Khor SS, Toyoda H, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Ariyoshi Y, Hashizume Y, Ogi K, Hiejima H, Kamei Y, Hida A, Miyamoto M, Ikegami A, Wada Y, Takami M, Higashiyama Y, Miyake R, Kondo H, Fujimura Y, Tamura Y, Taniyama Y, Omata N, Tanaka Y, Moriya S, Furuya H, Kato M, Kawamura Y, Otowa T, Miyashita A, Kojima H, Saji H, Shimada M, Yamasaki M, Kobayashi T, Misawa R, Shigematsu Y, Kuwano R, Sasaki T, Ishigooka J, Wada Y, Tsuruta K, Chiba S, Tanaka F, Yamada N, Okawa M, Kuroda K, Kume K, Hirata K, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K
J Hum Genet 2018 Dec;63(12):1259-1267. Epub 2018 Sep 28 doi: 10.1038/s10038-018-0518-8. PMID: 30266950
Tafti M, Hor H, Dauvilliers Y, Lammers GJ, Overeem S, Mayer G, Javidi S, Iranzo A, Santamaria J, Peraita-Adrados R, Vicario JL, Arnulf I, Plazzi G, Bayard S, Poli F, Pizza F, Geisler P, Wierzbicka A, Bassetti CL, Mathis J, Lecendreux M, Donjacour CE, van der Heide A, Heinzer R, Haba-Rubio J, Feketeova E, Högl B, Frauscher B, Benetó A, Khatami R, Cañellas F, Pfister C, Scholz S, Billiard M, Baumann CR, Ercilla G, Verduijn W, Claas FH, Dubois V, Nowak J, Eberhard HP, Pradervand S, Hor CN, Testi M, Tiercy JM, Kutalik Z
Sleep 2014 Jan 1;37(1):19-25. doi: 10.5665/sleep.3300. PMID: 24381371Free PMC Article
Heier MS, Evsiukova T, Wilson J, Abdelnoor M, Hublin C, Ervik S
Acta Neurol Scand 2009 Oct;120(4):276-80. Epub 2009 May 15 doi: 10.1111/j.1600-0404.2009.01166.x. PMID: 19456307
Dauvilliers Y, Tafti M
Ann Med 2006;38(4):252-62. doi: 10.1080/07853890500489700. PMID: 16754256

Prognosis

Fournier S, Dauvilliers Y, Warby SC, Labrecque M, Zadra A, Boucetta S, El Gewely M, Kaddioui H, Lopez R, Montplaisir JY, Bareke E, Tétreault M, Desautels A
J Sleep Res 2022 Aug;31(4):e13537. Epub 2021 Dec 15 doi: 10.1111/jsr.13537. PMID: 34913218
Geremew D, Rahimi-Golkhandan A, Sadeghniiat-Haghighi K, Shakiba Y, Khajeh-Mehrizi A, Ansaripour B, Izad M
Iran J Allergy Asthma Immunol 2017 Oct;16(5):452-456. PMID: 29149785
Scheinfeldt LB, Gharani N, Kasper RS, Schmidlen TJ, Gordon ES, Jarvis JP, Delaney S, Kronenthal CJ, Gerry NP, Christman MF
Am J Med Genet B Neuropsychiatr Genet 2015 Dec;168(8):697-705. Epub 2015 Sep 3 doi: 10.1002/ajmg.b.32362. PMID: 26333835Free PMC Article
Cingoz S, Agilkaya S, Oztura I, Eroglu S, Karadeniz D, Evlice A, Altungoz O, Yilmaz H, Baklan B
Genet Test Mol Biomarkers 2014 Apr;18(4):261-8. Epub 2014 Feb 26 doi: 10.1089/gtmb.2013.0391. PMID: 24571861Free PMC Article
Hudson JI, Mangweth B, Pope HG Jr, De Col C, Hausmann A, Gutweniger S, Laird NM, Biebl W, Tsuang MT
Arch Gen Psychiatry 2003 Feb;60(2):170-7. doi: 10.1001/archpsyc.60.2.170. PMID: 12578434

Clinical prediction guides

Fournier S, Dauvilliers Y, Warby SC, Labrecque M, Zadra A, Boucetta S, El Gewely M, Kaddioui H, Lopez R, Montplaisir JY, Bareke E, Tétreault M, Desautels A
J Sleep Res 2022 Aug;31(4):e13537. Epub 2021 Dec 15 doi: 10.1111/jsr.13537. PMID: 34913218
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G
Brain 2014 Jun;137(Pt 6):1643-55. Epub 2014 Apr 10 doi: 10.1093/brain/awu069. PMID: 24727570
Han F, Lin L, Li J, Dong SX, An P, Zhao L, Liu NY, Li QY, Yan H, Gao ZC, Faraco J, Strohl KP, Liu X, Miyadera H, Mignot E
Tissue Antigens 2012 Oct;80(4):328-35. Epub 2012 Aug 4 doi: 10.1111/j.1399-0039.2012.01948.x. PMID: 22862152
Lecendreux M, Bassetti C, Dauvilliers Y, Mayer G, Neidhart E, Tafti M
Mol Psychiatry 2003 Jan;8(1):114-7. doi: 10.1038/sj.mp.4001203. PMID: 12556916
Dauvilliers Y, Neidhart E, Lecendreux M, Billiard M, Tafti M
Mol Psychiatry 2001 Jul;6(4):367-72. doi: 10.1038/sj.mp.4000911. PMID: 11443519

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