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Narcolepsy type 1

MedGen UID:
1619683
Concept ID:
C4543926
Disease or Syndrome
SNOMED CT: Narcolepsy type 1 (735676003)

Definition

A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions). [from ORPHANET]

Professional guidelines

PubMed

Bassetti CLA, Adamantidis A, Burdakov D, Han F, Gay S, Kallweit U, Khatami R, Koning F, Kornum BR, Lammers GJ, Liblau RS, Luppi PH, Mayer G, Pollmächer T, Sakurai T, Sallusto F, Scammell TE, Tafti M, Dauvilliers Y
Nat Rev Neurol 2019 Sep;15(9):519-539. Epub 2019 Jul 19 doi: 10.1038/s41582-019-0226-9. PMID: 31324898
Kallweit U, Bassetti CL
Expert Opin Pharmacother 2017 Jun;18(8):809-817. Epub 2017 May 17 doi: 10.1080/14656566.2017.1323877. PMID: 28443381
Barateau L, Lopez R, Dauvilliers Y
CNS Drugs 2016 May;30(5):369-79. doi: 10.1007/s40263-016-0337-4. PMID: 27155860

Recent clinical studies

Etiology

Dauvilliers Y, Mignot E, Del Río Villegas R, Du Y, Hanson E, Inoue Y, Kadali H, Koundourakis E, Meyer S, Rogers R, Scammell TE, Sheikh SI, Swick T, Szakács Z, von Rosenstiel P, Wu J, Zeitz H, Murthy NV, Plazzi G, von Hehn C
N Engl J Med 2023 Jul 27;389(4):309-321. doi: 10.1056/NEJMoa2301940. PMID: 37494485
Ollila HM, Sharon E, Lin L, Sinnott-Armstrong N, Ambati A, Yogeshwar SM, Hillary RP, Jolanki O, Faraco J, Einen M, Luo G, Zhang J, Han F, Yan H, Dong XS, Li J, Zhang J, Hong SC, Kim TW, Dauvilliers Y, Barateau L, Lammers GJ, Fronczek R, Mayer G, Santamaria J, Arnulf I, Knudsen-Heier S, Bredahl MKL, Thorsby PM, Plazzi G, Pizza F, Moresco M, Crowe C, Van den Eeden SK, Lecendreux M, Bourgin P, Kanbayashi T, Martínez-Orozco FJ, Peraita-Adrados R, Benetó A, Montplaisir J, Desautels A, Huang YS; FinnGen, Jennum P, Nevsimalova S, Kemlink D, Iranzo A, Overeem S, Wierzbicka A, Geisler P, Sonka K, Honda M, Högl B, Stefani A, Coelho FM, Mantovani V, Feketeova E, Wadelius M, Eriksson N, Smedje H, Hallberg P, Hesla PE, Rye D, Pelin Z, Ferini-Strambi L, Bassetti CL, Mathis J, Khatami R, Aran A, Nampoothiri S, Olsson T, Kockum I, Partinen M, Perola M, Kornum BR, Rueger S, Winkelmann J, Miyagawa T, Toyoda H, Khor SS, Shimada M, Tokunaga K, Rivas M, Pritchard JK, Risch N, Kutalik Z, O'Hara R, Hallmayer J, Ye CJ, Mignot EJ
Nat Commun 2023 May 15;14(1):2709. doi: 10.1038/s41467-023-36120-z. PMID: 37188663Free PMC Article
Trotti LM
Continuum (Minneap Minn) 2020 Aug;26(4):890-907. doi: 10.1212/CON.0000000000000883. PMID: 32756227Free PMC Article
Dauvilliers Y, Schenck CH, Postuma RB, Iranzo A, Luppi PH, Plazzi G, Montplaisir J, Boeve B
Nat Rev Dis Primers 2018 Aug 30;4(1):19. doi: 10.1038/s41572-018-0016-5. PMID: 30166532
Kornum BR, Knudsen S, Ollila HM, Pizza F, Jennum PJ, Dauvilliers Y, Overeem S
Nat Rev Dis Primers 2017 Feb 9;3:16100. doi: 10.1038/nrdp.2016.100. PMID: 28179647

Diagnosis

Barateau L, Pizza F, Chenini S, Peter-Derex L, Dauvilliers Y
Rev Neurol (Paris) 2023 Oct;179(7):727-740. Epub 2023 Aug 25 doi: 10.1016/j.neurol.2023.08.001. PMID: 37634997
Blattner M, Maski K
Sleep Med Clin 2023 Jun;18(2):183-199. Epub 2023 Mar 8 doi: 10.1016/j.jsmc.2023.01.003. PMID: 37120161
Barateau L, Pizza F, Plazzi G, Dauvilliers Y
J Sleep Res 2022 Aug;31(4):e13631. Epub 2022 May 27 doi: 10.1111/jsr.13631. PMID: 35624073
Bassetti CLA, Adamantidis A, Burdakov D, Han F, Gay S, Kallweit U, Khatami R, Koning F, Kornum BR, Lammers GJ, Liblau RS, Luppi PH, Mayer G, Pollmächer T, Sakurai T, Sallusto F, Scammell TE, Tafti M, Dauvilliers Y
Nat Rev Neurol 2019 Sep;15(9):519-539. Epub 2019 Jul 19 doi: 10.1038/s41582-019-0226-9. PMID: 31324898
Dauvilliers Y, Schenck CH, Postuma RB, Iranzo A, Luppi PH, Plazzi G, Montplaisir J, Boeve B
Nat Rev Dis Primers 2018 Aug 30;4(1):19. doi: 10.1038/s41572-018-0016-5. PMID: 30166532

Therapy

Dauvilliers Y, Mignot E, Del Río Villegas R, Du Y, Hanson E, Inoue Y, Kadali H, Koundourakis E, Meyer S, Rogers R, Scammell TE, Sheikh SI, Swick T, Szakács Z, von Rosenstiel P, Wu J, Zeitz H, Murthy NV, Plazzi G, von Hehn C
N Engl J Med 2023 Jul 27;389(4):309-321. doi: 10.1056/NEJMoa2301940. PMID: 37494485
Ollila HM, Sharon E, Lin L, Sinnott-Armstrong N, Ambati A, Yogeshwar SM, Hillary RP, Jolanki O, Faraco J, Einen M, Luo G, Zhang J, Han F, Yan H, Dong XS, Li J, Zhang J, Hong SC, Kim TW, Dauvilliers Y, Barateau L, Lammers GJ, Fronczek R, Mayer G, Santamaria J, Arnulf I, Knudsen-Heier S, Bredahl MKL, Thorsby PM, Plazzi G, Pizza F, Moresco M, Crowe C, Van den Eeden SK, Lecendreux M, Bourgin P, Kanbayashi T, Martínez-Orozco FJ, Peraita-Adrados R, Benetó A, Montplaisir J, Desautels A, Huang YS; FinnGen, Jennum P, Nevsimalova S, Kemlink D, Iranzo A, Overeem S, Wierzbicka A, Geisler P, Sonka K, Honda M, Högl B, Stefani A, Coelho FM, Mantovani V, Feketeova E, Wadelius M, Eriksson N, Smedje H, Hallberg P, Hesla PE, Rye D, Pelin Z, Ferini-Strambi L, Bassetti CL, Mathis J, Khatami R, Aran A, Nampoothiri S, Olsson T, Kockum I, Partinen M, Perola M, Kornum BR, Rueger S, Winkelmann J, Miyagawa T, Toyoda H, Khor SS, Shimada M, Tokunaga K, Rivas M, Pritchard JK, Risch N, Kutalik Z, O'Hara R, Hallmayer J, Ye CJ, Mignot EJ
Nat Commun 2023 May 15;14(1):2709. doi: 10.1038/s41467-023-36120-z. PMID: 37188663Free PMC Article
Dauvilliers Y, Schenck CH, Postuma RB, Iranzo A, Luppi PH, Plazzi G, Montplaisir J, Boeve B
Nat Rev Dis Primers 2018 Aug 30;4(1):19. doi: 10.1038/s41572-018-0016-5. PMID: 30166532
Kornum BR, Knudsen S, Ollila HM, Pizza F, Jennum PJ, Dauvilliers Y, Overeem S
Nat Rev Dis Primers 2017 Feb 9;3:16100. doi: 10.1038/nrdp.2016.100. PMID: 28179647
Billiard M, Sonka K
Sleep Med Rev 2016 Oct;29:23-33. Epub 2015 Sep 3 doi: 10.1016/j.smrv.2015.08.007. PMID: 26599679

Prognosis

Barateau L, Pizza F, Chenini S, Peter-Derex L, Dauvilliers Y
Rev Neurol (Paris) 2023 Oct;179(7):727-740. Epub 2023 Aug 25 doi: 10.1016/j.neurol.2023.08.001. PMID: 37634997
Casale S, Assirelli V, Pizza F, Balsamo A, Gennari M, Pession A, Plazzi G, Cassio A
Front Endocrinol (Lausanne) 2023;14:1037398. Epub 2023 Jun 15 doi: 10.3389/fendo.2023.1037398. PMID: 37396177Free PMC Article
Madan R, Pitts J, Patterson MC, Lloyd R, Keating G, Kotagal S
J Child Neurol 2021 Feb;36(2):123-127. Epub 2020 Sep 15 doi: 10.1177/0883073820954617. PMID: 32933368
Calandra-Buonaura G, Provini F, Guaraldi P, Plazzi G, Cortelli P
Sleep Med Rev 2016 Apr;26:43-56. Epub 2015 Jun 3 doi: 10.1016/j.smrv.2015.05.005. PMID: 26146026
Rocca FL, Pizza F, Ricci E, Plazzi G
Neuropediatrics 2015 Jun;46(3):181-98. Epub 2015 May 11 doi: 10.1055/s-0035-1550152. PMID: 25961600

Clinical prediction guides

Liblau RS, Latorre D, Kornum BR, Dauvilliers Y, Mignot EJ
Nat Rev Immunol 2024 Jan;24(1):33-48. Epub 2023 Jul 3 doi: 10.1038/s41577-023-00902-9. PMID: 37400646
Dauvilliers Y, Mignot E, Del Río Villegas R, Du Y, Hanson E, Inoue Y, Kadali H, Koundourakis E, Meyer S, Rogers R, Scammell TE, Sheikh SI, Swick T, Szakács Z, von Rosenstiel P, Wu J, Zeitz H, Murthy NV, Plazzi G, von Hehn C
N Engl J Med 2023 Jul 27;389(4):309-321. doi: 10.1056/NEJMoa2301940. PMID: 37494485
Licis A
Continuum (Minneap Minn) 2020 Aug;26(4):1034-1069. doi: 10.1212/CON.0000000000000897. PMID: 32756235
Sarkanen T, Alakuijala A, Julkunen I, Partinen M
Curr Neurol Neurosci Rep 2018 Jun 1;18(7):43. doi: 10.1007/s11910-018-0851-5. PMID: 29855798
Moresco M, Pizza F, Antelmi E, Plazzi G
Curr Drug Metab 2018;19(13):1073-1079. doi: 10.2174/1389200219666180305153134. PMID: 29512449

Recent systematic reviews

Gool JK, van Heese EM, Schinkelshoek MS, Remmerswaal A, Lammers GJ, van Dijk KD, Fronczek R
Sleep Med 2023 Sep;109:118-127. Epub 2023 Jun 26 doi: 10.1016/j.sleep.2023.06.008. PMID: 37437491
Zhang Y, Ren R, Yang L, Zhang H, Shi Y, Vitiello MV, Tang X, Sanford LD
Sleep Med Rev 2022 Jun;63:101610. Epub 2022 Feb 18 doi: 10.1016/j.smrv.2022.101610. PMID: 35278894
Filardi M, D'Anselmo A, Agnoli S, Rubaltelli E, Mastria S, Mangiaruga A, Franceschini C, Pizza F, Corazza GE, Plazzi G
Sleep Med Rev 2021 Oct;59:101510. Epub 2021 Jun 3 doi: 10.1016/j.smrv.2021.101510. PMID: 34166991
Zhang Y, Ren R, Yang L, Zhang H, Shi Y, Sanford LD, Tang X
Sleep Med Rev 2021 Aug;58:101488. Epub 2021 Apr 5 doi: 10.1016/j.smrv.2021.101488. PMID: 33934047
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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