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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, 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
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
Gordon PH
CNS Drugs 2011 Jan;25(1):1-15. doi: 10.2165/11586000-000000000-00000. PMID: 21128691

Curated

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

Recent clinical studies

Etiology

Barrie W, Yang Y, Irving-Pease EK, Attfield KE, Scorrano G, Jensen LT, Armen AP, Dimopoulos EA, Stern A, Refoyo-Martinez A, Pearson A, Ramsøe A, Gaunitz C, Demeter F, Jørkov MLS, Møller SB, Springborg B, Klassen L, Hyldgård IM, Wickmann N, Vinner L, Korneliussen TS, Allentoft ME, Sikora M, Kristiansen K, Rodriguez S, Nielsen R, Iversen AKN, Lawson DJ, Fugger L, Willerslev E
Nature 2024 Jan;625(7994):321-328. Epub 2024 Jan 10 doi: 10.1038/s41586-023-06618-z. PMID: 38200296Free 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
Hemond CC, Reich DS, Dundamadappa SK
AJR Am J Roentgenol 2022 Jul;219(1):120-131. Epub 2021 Dec 1 doi: 10.2214/AJR.21.26777. PMID: 34851712Free PMC Article
Eftekharian MM, Noroozi R, Komaki A, Mazdeh M, Ghafouri-Fard S, Taheri M
Immunol Invest 2019 Jul;48(5):549-554. Epub 2019 Mar 1 doi: 10.1080/08820139.2019.1576728. PMID: 30822187
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

Chen L, Wang F, Zhang H, Cao B
Sci Rep 2024 Jan 18;14(1):1557. doi: 10.1038/s41598-024-51903-0. PMID: 38238429Free PMC Article
Ali FHM, Smatti MK, Elrayess MA, Al Thani AA, Yassine HM
Eur Rev Med Pharmacol Sci 2023 Sep;27(18):8463-8485. doi: 10.26355/eurrev_202309_33772. PMID: 37782163
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
Rodríguez-Salgado P, García-Romero MT
Gac Med Mex 2019;155(5):522-531. doi: 10.24875/GMM.18004288. PMID: 31695234

Therapy

Chen L, Wang F, Zhang H, Cao B
Sci Rep 2024 Jan 18;14(1):1557. doi: 10.1038/s41598-024-51903-0. PMID: 38238429Free PMC Article
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
Kim KH, Kim SH, Park NY, Hyun JW, Kim HJ
Mult Scler Relat Disord 2022 Dec;68:104141. Epub 2022 Aug 21 doi: 10.1016/j.msard.2022.104141. PMID: 36037757Free 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

Chen L, Wang F, Zhang H, Cao B
Sci Rep 2024 Jan 18;14(1):1557. doi: 10.1038/s41598-024-51903-0. PMID: 38238429Free 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
Goodin DS
Handb Clin Neurol 2016;138:173-206. doi: 10.1016/B978-0-12-802973-2.00011-2. PMID: 27637959
Weston M, Constantinescu CS
Neurodegener Dis Manag 2015;5(1):19-25. doi: 10.2217/nmt.14.45. PMID: 25711451
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

Chen L, Wang F, Zhang H, Cao B
Sci Rep 2024 Jan 18;14(1):1557. doi: 10.1038/s41598-024-51903-0. PMID: 38238429Free 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
Kim KH, Kim SH, Park NY, Hyun JW, Kim HJ
Mult Scler Relat Disord 2022 Dec;68:104141. Epub 2022 Aug 21 doi: 10.1016/j.msard.2022.104141. PMID: 36037757Free PMC Article
Goodin DS
Handb Clin Neurol 2016;138:173-206. doi: 10.1016/B978-0-12-802973-2.00011-2. PMID: 27637959
Croxford JL, Olson JK, Miller SD
Autoimmun Rev 2002 Oct;1(5):251-60. doi: 10.1016/s1568-9972(02)00080-0. PMID: 12848977

Recent systematic reviews

Mohammadi M, Mohammadi A, Habibzadeh A, Korkorian R, Mohamadi M, Shaygannejad V, Zabeti A, Mirmosayyeb O
Obes Res Clin Pract 2024 Sep-Oct;18(5):311-321. Epub 2024 Nov 29 doi: 10.1016/j.orcp.2024.11.005. PMID: 39613552
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
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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    Curated

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

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