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Multiple sclerosis, susceptibility to, 5(MS5)

MedGen UID:
766642
Concept ID:
C3553728
Finding
Synonym: MS5
 
Gene (location): TNFRSF1A (12p13.31)
 
Monarch Initiative: MONDO:0013893
OMIM®: 614810

Definition

Multiple sclerosis-5 (MS5) is a chronic inflammatory disease of the central nervous system characterized by damage to axonal myelin sheaths and axons, commonly resulting in progressive neurologic disability beginning in early adulthood (summary by Xu et al., 2001). For a discussion of genetic heterogeneity of multiple sclerosis (MS), see MS1 (126200). [from OMIM]

Professional guidelines

PubMed

Moss BP, Mahajan KR, Bermel RA, Hellisz K, Hua LH, Hudec T, Husak S, McGinley MP, Ontaneda D, Wang Z, Weber M, Tagliani P, Cárdenas-Robledo S, Zabalza A, Arrambide G, Carbonell-Mirabent P, Rodríguez-Barranco M, Sastre-Garriga J, Tintore M, Montalban X, Douglas M, Ogbuokiri E, Aravidis B, Cohen JA, Mowry EM, Fitzgerald KC
Mult Scler 2020 Sep;26(10):1163-1171. Epub 2020 Aug 10 doi: 10.1177/1352458520948231. PMID: 32772807Free PMC Article
Lin S, Green HD, Hendy P, Heerasing NM, Chanchlani N, Hamilton B, Walker GJ, Heap GA, Hobart J, Martin RJ, Coles AJ, Silverberg MS, Irving PM, Chung-Faye G, Silber E, Cummings JRF, Lytvyak E, Andersen V, Wood AR, Tyrrell J, Beaumont RN, Weedon MN, Kennedy NA, Spiers A, Harrower T, Goodhand JR, Ahmad T
J Crohns Colitis 2020 Dec 2;14(12):1653-1661. doi: 10.1093/ecco-jcc/jjaa104. PMID: 32497177
An Q, Fan CH, Xu SM
Eur Rev Med Pharmacol Sci 2018 Sep;22(17):5747-5754. doi: 10.26355/eurrev_201809_15843. PMID: 30229853

Curated

UK NICE Guideline NG220, Multiple sclerosis in adults: management, 2022

Recent clinical studies

Etiology

Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N; University of California San Francisco MS-EPIC Team, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR
Brain 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PMID: 35253861Free PMC Article
Arneth BM
J Investig Med 2022 Jan;70(1):14-19. Epub 2021 Aug 12 doi: 10.1136/jim-2020-001609. PMID: 34385291
Jensen IJ, Jensen SN, McGonagill PW, Griffith TS, Mangalam AK, Badovinac VP
Immunohorizons 2021 Oct 26;5(10):844-854. doi: 10.4049/immunohorizons.2100070. PMID: 34702761Free PMC Article
Goodin DS, Oksenberg JR, Douillard V, Gourraud PA, Vince N
PLoS One 2021;16(8):e0254945. Epub 2021 Aug 9 doi: 10.1371/journal.pone.0254945. PMID: 34370753Free PMC Article
International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M, Oksenberg JR, Hintzen R, Barcellos LF; Wellcome Trust Case Control Consortium 2 (WTCCC2); International IBD Genetics Consortium (IIBDGC), Agliardi C, Alfredsson L, Alizadeh M, Anderson C, Andrews R, Søndergaard HB, Baker A, Band G, Baranzini SE, Barizzone N, Barrett J, Bellenguez C, Bergamaschi L, Bernardinelli L, Berthele A, Biberacher V, Binder TM, Blackburn H, Bomfim IL, Brambilla P, Broadley S, Brochet B, Brundin L, Buck D, Butzkueven H, Caillier SJ, Camu W, Carpentier W, Cavalla P, Celius EG, Coman I, Comi G, Corrado L, Cosemans L, Cournu-Rebeix I, Cree BA, Cusi D, Damotte V, Defer G, Delgado SR, Deloukas P, di Sapio A, Dilthey AT, Donnelly P, Dubois B, Duddy M, Edkins S, Elovaara I, Esposito F, Evangelou N, Fiddes B, Field J, Franke A, Freeman C, Frohlich IY, Galimberti D, Gieger C, Gourraud PA, Graetz C, Graham A, Grummel V, Guaschino C, Hadjixenofontos A, Hakonarson H, Halfpenny C, Hall G, Hall P, Hamsten A, Harley J, Harrower T, Hawkins C, Hellenthal G, Hillier C, Hobart J, Hoshi M, Hunt SE, Jagodic M, Jelčić I, Jochim A, Kendall B, Kermode A, Kilpatrick T, Koivisto K, Konidari I, Korn T, Kronsbein H, Langford C, Larsson M, Lathrop M, Lebrun-Frenay C, Lechner-Scott J, Lee MH, Leone MA, Leppä V, Liberatore G, Lie BA, Lill CM, Lindén M, Link J, Luessi F, Lycke J, Macciardi F, Männistö S, Manrique CP, Martin R, Martinelli V, Mason D, Mazibrada G, McCabe C, Mero IL, Mescheriakova J, Moutsianas L, Myhr KM, Nagels G, Nicholas R, Nilsson P, Piehl F, Pirinen M, Price SE, Quach H, Reunanen M, Robberecht W, Robertson NP, Rodegher M, Rog D, Salvetti M, Schnetz-Boutaud NC, Sellebjerg F, Selter RC, Schaefer C, Shaunak S, Shen L, Shields S, Siffrin V, Slee M, Sorensen PS, Sorosina M, Sospedra M, Spurkland A, Strange A, Sundqvist E, Thijs V, Thorpe J, Ticca A, Tienari P, van Duijn C, Visser EM, Vucic S, Westerlind H, Wiley JS, Wilkins A, Wilson JF, Winkelmann J, Zajicek J, Zindler E, Haines JL, Pericak-Vance MA, Ivinson AJ, Stewart G, Hafler D, Hauser SL, Compston A, McVean G, De Jager P, Sawcer SJ, McCauley JL
Nat Genet 2013 Nov;45(11):1353-60. Epub 2013 Sep 29 doi: 10.1038/ng.2770. PMID: 24076602Free PMC Article

Diagnosis

Rahmanzadeh R, Galbusera R, Lu PJ, Bahn E, Weigel M, Barakovic M, Franz J, Nguyen TD, Spincemaille P, Schiavi S, Daducci A, La Rosa F, Absinta M, Sati P, Bach Cuadra M, Radue EW, Leppert D, Kuhle J, Kappos L, Brück W, Reich DS, Stadelmann C, Wang Y, Granziera C
Ann Neurol 2022 Sep;92(3):486-502. Epub 2022 Jul 13 doi: 10.1002/ana.26441. PMID: 35713309Free PMC Article
Chia R, Saez-Atienzar S, Murphy N, Chiò A, Blauwendraat C; International Myasthenia Gravis Genomics Consortium, Roda RH, Tienari PJ, Kaminski HJ, Ricciardi R, Guida M, De Rosa A, Petrucci L, Evoli A, Provenzano C, Drachman DB, Traynor BJ
Proc Natl Acad Sci U S A 2022 Feb 1;119(5) doi: 10.1073/pnas.2108672119. PMID: 35074870Free PMC Article
Wendebourg MJ, Nagy S, Derfuss T, Parmar K, Schlaeger R
J Neurol 2020 May;267(5):1233-1244. Epub 2019 Jan 29 doi: 10.1007/s00415-019-09206-2. PMID: 30694379
Rodríguez-Salgado P, García-Romero MT
Gac Med Mex 2019;155(5):522-531. doi: 10.24875/GMM.18004288. PMID: 31695234
Yeh EA, Chitnis T, Krupp L, Ness J, Chabas D, Kuntz N, Waubant E; US Network of Pediatric Multiple Sclerosis Centers of Excellence
Nat Rev Neurol 2009 Nov;5(11):621-31. Epub 2009 Oct 13 doi: 10.1038/nrneurol.2009.158. PMID: 19826402

Therapy

Louis S, Carlson AK, Suresh A, Rim J, Mays M, Ontaneda D, Dhawan A
Neurology 2023 Mar 7;100(10):474-483. Epub 2022 Nov 16 doi: 10.1212/WNL.0000000000201630. PMID: 36384657Free PMC Article
Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N; University of California San Francisco MS-EPIC Team, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR
Brain 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PMID: 35253861Free PMC Article
Zurawski J, Stankiewicz J
Am J Med 2018 May;131(5):464-472. Epub 2017 Dec 21 doi: 10.1016/j.amjmed.2017.11.044. PMID: 29274753
Virtanen JO, Jacobson S
CNS Neurol Disord Drug Targets 2012 Aug;11(5):528-44. doi: 10.2174/187152712801661220. PMID: 22583435Free PMC Article
Yeh EA, Chitnis T, Krupp L, Ness J, Chabas D, Kuntz N, Waubant E; US Network of Pediatric Multiple Sclerosis Centers of Excellence
Nat Rev Neurol 2009 Nov;5(11):621-31. Epub 2009 Oct 13 doi: 10.1038/nrneurol.2009.158. PMID: 19826402

Prognosis

Zurawski J, Stankiewicz J
Am J Med 2018 May;131(5):464-472. Epub 2017 Dec 21 doi: 10.1016/j.amjmed.2017.11.044. PMID: 29274753
Zostawa J, Adamczyk J, Sowa P, Adamczyk-Sowa M
Neurol Sci 2017 Mar;38(3):389-398. Epub 2017 Jan 11 doi: 10.1007/s10072-016-2802-8. PMID: 28078565Free PMC Article
Goodin DS
Handb Clin Neurol 2016;138:173-206. doi: 10.1016/B978-0-12-802973-2.00011-2. PMID: 27637959
Voskuhl RR, Gold SM
Nat Rev Neurol 2012 Mar 27;8(5):255-63. doi: 10.1038/nrneurol.2012.43. PMID: 22450508Free PMC Article
Chitnis T, Krupp L, Yeh A, Rubin J, Kuntz N, Strober JB, Chabas D, Weinstock-Guttmann B, Ness J, Rodriguez M, Waubant E
Neurol Clin 2011 May;29(2):481-505. doi: 10.1016/j.ncl.2011.01.004. PMID: 21439455

Clinical prediction guides

Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N; University of California San Francisco MS-EPIC Team, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR
Brain 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PMID: 35253861Free PMC Article
Goodin DS, Oksenberg JR, Douillard V, Gourraud PA, Vince N
PLoS One 2021;16(8):e0254945. Epub 2021 Aug 9 doi: 10.1371/journal.pone.0254945. PMID: 34370753Free PMC Article
Voskuhl RR
Mult Scler 2020 Apr;26(5):554-560. Epub 2020 Jan 22 doi: 10.1177/1352458519892491. PMID: 31965884Free PMC Article
Patsopoulos NA, De Jager PL
Mult Scler 2020 Apr;26(5):576-581. Epub 2020 Jan 22 doi: 10.1177/1352458519898332. PMID: 31965883
Voskuhl RR, Gold SM
Nat Rev Neurol 2012 Mar 27;8(5):255-63. doi: 10.1038/nrneurol.2012.43. PMID: 22450508Free PMC Article

Recent systematic reviews

Reeves JA, Mohebbi M, Zivadinov R, Bergsland N, Dwyer MG, Salman F, Schweser F, Jakimovski D
Mult Scler Relat Disord 2023 Nov;79:104968. Epub 2023 Sep 14 doi: 10.1016/j.msard.2023.104968. PMID: 37716210Free PMC Article
Mohammadhosayni M, Khosrojerdi A, Lorian K, Aslani S, Imani D, Razi B, Babaie F, Torkamandi S
BMC Neurol 2020 May 29;20(1):218. doi: 10.1186/s12883-020-01804-2. PMID: 32471473Free PMC Article
De Silvestri A, Capittini C, Mallucci G, Bergamaschi R, Rebuffi C, Pasi A, Martinetti M, Tinelli C
Dis Markers 2019;2019:1409069. Epub 2019 Nov 6 doi: 10.1155/2019/1409069. PMID: 31781296Free PMC Article
Zhang Y, Zhang J, Liu H, He F, Chen A, Yang H, Pi B
Medicine (Baltimore) 2019 Sep;98(38):e17224. doi: 10.1097/MD.0000000000017224. PMID: 31567981Free PMC Article
Zhao S, Wang J, Liu Y, Luo L, Zhu Z, Li E, Zhao Z
J Sex Med 2018 Dec;15(12):1716-1727. Epub 2018 Nov 2 doi: 10.1016/j.jsxm.2018.09.016. PMID: 30393105

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    Clinical resources

    Practice guidelines

    • PubMed
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    Curated

    • NICE, 2022
      UK NICE Guideline NG220, Multiple sclerosis in adults: management, 2022

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