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Narcolepsy 6, susceptibility to(NRCLP6)

MedGen UID:
481834
Concept ID:
C3280204
Finding
Synonym: NRCLP6
 
Monarch Initiative: MONDO:0013639
OMIM®: 614223

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

Capittini C, De Silvestri A, Terzaghi M, Scotti V, Rebuffi C, Pasi A, Manni R, Martinetti M, Tinelli C
Sleep Med 2018 Dec;52:150-157. Epub 2018 Sep 20 doi: 10.1016/j.sleep.2018.08.024. PMID: 30321823
Douglass AB
CNS Spectr 2003 Feb;8(2):120-6. doi: 10.1017/s1092852900018344. PMID: 12612497

Recent clinical studies

Etiology

O'Driscoll DM, Young AC
Respirology 2023 Jun;28(6):518-524. Epub 2023 Mar 29 doi: 10.1111/resp.14500. PMID: 36990762
Bonvalet M, Ollila HM, Ambati A, Mignot E
Curr Opin Pulm Med 2017 Nov;23(6):522-529. doi: 10.1097/MCP.0000000000000426. PMID: 28991006Free PMC Article
Tanaka S, Honda M, Toyoda H, Kodama T
Hum Immunol 2014 Aug;75(8):940-4. Epub 2014 Jun 30 doi: 10.1016/j.humimm.2014.06.023. PMID: 24994458
Thebault S, Vincent A, Gringras P
Curr Opin Pulm Med 2013 Nov;19(6):587-93. doi: 10.1097/MCP.0b013e328365af97. PMID: 24048081
Douglass AB
CNS Spectr 2003 Feb;8(2):120-6. doi: 10.1017/s1092852900018344. PMID: 12612497

Diagnosis

Bonvalet M, Ollila HM, Ambati A, Mignot E
Curr Opin Pulm Med 2017 Nov;23(6):522-529. doi: 10.1097/MCP.0000000000000426. PMID: 28991006Free PMC Article
Yamasaki M, Miyagawa T, Toyoda H, Khor SS, Liu X, Kuwabara H, Kano Y, Shimada T, Sugiyama T, Nishida H, Sugaya N, Tochigi M, Otowa T, Okazaki Y, Kaiya H, Kawamura Y, Miyashita A, Kuwano R, Kasai K, Tanii H, Sasaki T, Honda Y, Honda M, Tokunaga K
J Hum Genet 2016 Oct;61(10):873-878. Epub 2016 Jun 16 doi: 10.1038/jhg.2016.65. PMID: 27305985
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
Chen L, Fong SY, Lam CW, Tang NL, Ng MH, Li AM, Ho CK, Cheng SH, Lau KM, Wing YK
Sleep 2007 Jul;30(7):851-8. doi: 10.1093/sleep/30.7.851. PMID: 17682655Free PMC Article
Douglass AB
CNS Spectr 2003 Feb;8(2):120-6. doi: 10.1017/s1092852900018344. PMID: 12612497

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
EBioMedicine 2019 Feb;40:595-604. Epub 2019 Jan 30 doi: 10.1016/j.ebiom.2019.01.041. PMID: 30711515Free PMC Article
Capittini C, De Silvestri A, Terzaghi M, Scotti V, Rebuffi C, Pasi A, Manni R, Martinetti M, Tinelli C
Sleep Med 2018 Dec;52:150-157. Epub 2018 Sep 20 doi: 10.1016/j.sleep.2018.08.024. PMID: 30321823
Bonvalet M, Ollila HM, Ambati A, Mignot E
Curr Opin Pulm Med 2017 Nov;23(6):522-529. doi: 10.1097/MCP.0000000000000426. PMID: 28991006Free PMC Article
Thebault S, Vincent A, Gringras P
Curr Opin Pulm Med 2013 Nov;19(6):587-93. doi: 10.1097/MCP.0b013e328365af97. PMID: 24048081
Ton TG, Longstreth WT Jr, Koepsell T
Neuroepidemiology 2009;32(2):114-21. Epub 2008 Nov 27 doi: 10.1159/000177037. PMID: 19039244Free PMC Article

Prognosis

Thebault S, Vincent A, Gringras P
Curr Opin Pulm Med 2013 Nov;19(6):587-93. doi: 10.1097/MCP.0b013e328365af97. PMID: 24048081
Kim JW, Shin HB, Robinson PA
Clin Neurophysiol 2009 Jul;120(7):1245-51. Epub 2009 May 24 doi: 10.1016/j.clinph.2009.04.018. PMID: 19467617
Arnulf I, Lin L, Gadoth N, File J, Lecendreux M, Franco P, Zeitzer J, Lo B, Faraco JH, Mignot E
Ann Neurol 2008 Apr;63(4):482-93. doi: 10.1002/ana.21333. PMID: 18438947
Kawashima M, Tamiya G, Oka A, Hohjoh H, Juji T, Ebisawa T, Honda Y, Inoko H, Tokunaga K
Am J Hum Genet 2006 Aug;79(2):252-63. Epub 2006 Jun 13 doi: 10.1086/505539. PMID: 16826516Free PMC Article
Planelles D, Puig N, Beneto A, Gomez E, Rubio P, Mirabet V, Bonanad S, Blasco I, Montoro JA
Eur J Immunogenet 1997 Dec;24(6):409-21. doi: 10.1046/j.1365-2370.1997.d01-115.x. PMID: 9534039

Clinical prediction guides

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
Ton TG, Longstreth WT Jr, Koepsell T
Neuroepidemiology 2009;32(2):114-21. Epub 2008 Nov 27 doi: 10.1159/000177037. PMID: 19039244Free PMC Article
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
Planelles D, Puig N, Beneto A, Gomez E, Rubio P, Mirabet V, Bonanad S, Blasco I, Montoro JA
Eur J Immunogenet 1997 Dec;24(6):409-21. doi: 10.1046/j.1365-2370.1997.d01-115.x. PMID: 9534039
Mignot E, Tafti M, Dement WC, Grumet FC
Adv Neuroimmunol 1995;5(1):23-37. doi: 10.1016/0960-5428(94)00043-n. PMID: 7795891

Recent systematic reviews

Capittini C, De Silvestri A, Terzaghi M, Scotti V, Rebuffi C, Pasi A, Manni R, Martinetti M, Tinelli C
Sleep Med 2018 Dec;52:150-157. Epub 2018 Sep 20 doi: 10.1016/j.sleep.2018.08.024. PMID: 30321823

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