Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Multiple sclerosis susceptibility 2(MS2)

MedGen UID:
436444
Concept ID:
C2675478
Finding
Synonyms: MS2; MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2
 
OMIM: 612594

Disease characteristics

Excerpted from the GeneReview: Multiple Sclerosis Overview
Multiple sclerosis (MS) is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system (CNS) of unknown etiology. The peak onset is between age 20 and 40 years; it may develop in children and has also been identified in persons over age 60 years. Women are affected approximately twice as often as men. The most common clinical signs and symptoms, occurring in isolation or in combination, include sensory disturbance of the limbs (~30%), partial or complete visual loss (~15%), acute and subacute motor dysfunction of the limbs (~13%), diplopia (7%), and gait dysfunction (5%). The course may be relapsing-remitting or progressive, severe or mild, and may involve the entire neuroaxis in a widespread fashion or predominantly affect the spinal cord and optic nerves. The four clinical phenotypes of MS are: relapsing-remitting MS (RR-MS) (initially occurring in more than 80% of individuals with MS); primary progressive MS (PP-MS) (occurring in 10%-20% of individuals with MS); progressive relapsing MS (PR-MS) (a rare form); and secondary progressive MS (SP-MS), to which approximately half of all persons diagnosed with RR-MS convert within a decade after the initial diagnosis. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Olaf Stüve  |  Jorge Oksenberg   view full author information

Recent clinical studies

Etiology

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. [Epub ahead of print] PMID: 24076602Free PMC Article
Sadovnick AD
Clin Immunol 2013 Nov;149(2):170-5. Epub 2013 May 11 doi: 10.1016/j.clim.2013.05.002. [Epub ahead of print] PMID: 23796437
Kalincik T, Guttmann CR, Krasensky J, Vaneckova M, Lelkova P, Tyblova M, Seidl Z, De Jager PL, Havrdova E, Horakova D
Genes Immun 2013 Jun;14(4):244-8. Epub 2013 Apr 11 doi: 10.1038/gene.2013.17. [Epub ahead of print] PMID: 23575354
O'Gorman C, Lin R, Stankovich J, Broadley SA
Neuroepidemiology 2013;40(1):1-12. Epub 2012 Oct 11 doi: 10.1159/000341902. [Epub ahead of print] PMID: 23075677
Patsopoulos NA; Bayer Pharma MS Genetics Working Group; Steering Committees of Studies Evaluating IFNβ-1b and a CCR1-Antagonist; ANZgene Consortium; GeneMSA; International Multiple Sclerosis Genetics Consortium, Esposito F, Reischl J, Lehr S, Bauer D, Heubach J, Sandbrink R, Pohl C, Edan G, Kappos L, Miller D, Montalbán J, Polman CH, Freedman MS, Hartung HP, Arnason BG, Comi G, Cook S, Filippi M, Goodin DS, Jeffery D, O'Connor P, Ebers GC, Langdon D, Reder AT, Traboulsee A, Zipp F, Schimrigk S, Hillert J, Bahlo M, Booth DR, Broadley S, Brown MA, Browning BL, Browning SR, Butzkueven H, Carroll WM, Chapman C, Foote SJ, Griffiths L, Kermode AG, Kilpatrick TJ, Lechner-Scott J, Marriott M, Mason D, Moscato P, Heard RN, Pender MP, Perreau VM, Perera D, Rubio JP, Scott RJ, Slee M, Stankovich J, Stewart GJ, Taylor BV, Tubridy N, Willoughby E, Wiley J, Matthews P, Boneschi FM, Compston A, Haines J, Hauser SL, McCauley J, Ivinson A, Oksenberg JR, Pericak-Vance M, Sawcer SJ, De Jager PL, Hafler DA, de Bakker PI
Ann Neurol 2011 Dec;70(6):897-912. doi: 10.1002/ana.22609. PMID: 22190364Free PMC Article

Diagnosis

Oksenberg JR
Expert Rev Neurother 2013 Dec;13(12 Suppl):11-9. doi: 10.1586/14737175.2013.865867. PMID: 24289837
International Multiple Sclerosis Genetics Consortium, Lill CM, Schjeide BM, Graetz C, Ban M, Alcina A, Ortiz MA, Pérez J, Damotte V, Booth D, Lopez de Lapuente A, Broer L, Schilling M, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Blaschke P, Buttmann M, Chan A, Compston A, Cournu-Rebeix I, Dörner T, Epplen JT, Fernández Ó, Gerdes LA, Guillot-Noël L, Hartung HP, Hoffjan S, Izquierdo G, Kemppinen A, Kroner A, Kubisch C, Kümpfel T, Li SC, Lindenberger U, Lohse P, Lubetzki C, Luessi F, Malhotra S, Mescheriakova J, Montalban X, Papeix C, Paredes LF, Rieckmann P, Steinhagen-Thiessen E, Winkelmann A, Zettl UK, Hintzen R, Vandenbroeck K, Stewart G, Fontaine B, Comabella M, Urcelay E, Matesanz F, Sawcer S, Bertram L, Zipp F
Brain 2013 Jun;136(Pt 6):1778-82. doi: 10.1093/brain/awt101. PMID: 23739915Free PMC Article
Kalincik T, Guttmann CR, Krasensky J, Vaneckova M, Lelkova P, Tyblova M, Seidl Z, De Jager PL, Havrdova E, Horakova D
Genes Immun 2013 Jun;14(4):244-8. Epub 2013 Apr 11 doi: 10.1038/gene.2013.17. [Epub ahead of print] PMID: 23575354
Langkammer C, Liu T, Khalil M, Enzinger C, Jehna M, Fuchs S, Fazekas F, Wang Y, Ropele S
Radiology 2013 May;267(2):551-9. Epub 2013 Jan 11 doi: 10.1148/radiol.12120707. [Epub ahead of print] PMID: 23315661Free PMC Article
O'Gorman C, Lin R, Stankovich J, Broadley SA
Neuroepidemiology 2013;40(1):1-12. Epub 2012 Oct 11 doi: 10.1159/000341902. [Epub ahead of print] PMID: 23075677

Therapy

International Multiple Sclerosis Genetics Consortium, Lill CM, Schjeide BM, Graetz C, Ban M, Alcina A, Ortiz MA, Pérez J, Damotte V, Booth D, Lopez de Lapuente A, Broer L, Schilling M, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Blaschke P, Buttmann M, Chan A, Compston A, Cournu-Rebeix I, Dörner T, Epplen JT, Fernández Ó, Gerdes LA, Guillot-Noël L, Hartung HP, Hoffjan S, Izquierdo G, Kemppinen A, Kroner A, Kubisch C, Kümpfel T, Li SC, Lindenberger U, Lohse P, Lubetzki C, Luessi F, Malhotra S, Mescheriakova J, Montalban X, Papeix C, Paredes LF, Rieckmann P, Steinhagen-Thiessen E, Winkelmann A, Zettl UK, Hintzen R, Vandenbroeck K, Stewart G, Fontaine B, Comabella M, Urcelay E, Matesanz F, Sawcer S, Bertram L, Zipp F
Brain 2013 Jun;136(Pt 6):1778-82. doi: 10.1093/brain/awt101. PMID: 23739915Free PMC Article
Malhotra S, Morcillo-Suárez C, Nurtdinov R, Rio J, Sarro E, Moreno M, Castilló J, Navarro A, Montalban X, Comabella M
Eur J Neurol 2013 Oct;20(10):1390-7. Epub 2013 May 22 doi: 10.1111/ene.12193. [Epub ahead of print] PMID: 23700969
Mahurkar S, Moldovan M, Suppiah V, O'Doherty C
PLoS One 2013;8(2):e57655. Epub 2013 Feb 28 doi: 10.1371/journal.pone.0057655. PMID: 23469041Free PMC Article
Matiello M, Weinshenker BG, Atkinson EJ, Schaefer-Klein J, Kantarci OH
Mult Scler 2011 May;17(5):634-6. Epub 2011 Jan 14 doi: 10.1177/1352458510394703. [Epub ahead of print] PMID: 21239413
O'Brien M, Lonergan R, Costelloe L, O'Rourke K, Fletcher JM, Kinsella K, Sweeney C, Antonelli G, Mills KH, O'Farrelly C, Hutchinson M, Tubridy N
Neurology 2010 Aug 3;75(5):411-8. doi: 10.1212/WNL.0b013e3181ebdd2b. PMID: 20679634

Prognosis

Mowry EM, Carey RF, Blasco MR, Pelletier J, Duquette P, Villoslada P, Malikova I, Roger E, Kinkel RP, McDonald J, Bacchetti P, Waubant E
PLoS One 2013;8(10):e75565. Epub 2013 Oct 10 doi: 10.1371/journal.pone.0075565. PMID: 24130718Free PMC Article
Kalincik T, Guttmann CR, Krasensky J, Vaneckova M, Lelkova P, Tyblova M, Seidl Z, De Jager PL, Havrdova E, Horakova D
Genes Immun 2013 Jun;14(4):244-8. Epub 2013 Apr 11 doi: 10.1038/gene.2013.17. [Epub ahead of print] PMID: 23575354
Langkammer C, Liu T, Khalil M, Enzinger C, Jehna M, Fuchs S, Fazekas F, Wang Y, Ropele S
Radiology 2013 May;267(2):551-9. Epub 2013 Jan 11 doi: 10.1148/radiol.12120707. [Epub ahead of print] PMID: 23315661Free PMC Article
Dyment DA, Cader MZ, Chao MJ, Lincoln MR, Morrison KM, Disanto G, Morahan JM, De Luca GC, Sadovnick AD, Lepage P, Montpetit A, Ebers GC, Ramagopalan SV
Neurology 2012 Jul 31;79(5):406-11. Epub 2012 Jun 27 doi: 10.1212/WNL.0b013e3182616fc4. [Epub ahead of print] PMID: 22744673Free PMC Article
Cagliani R, Fumagalli M, Guerini FR, Riva S, Galimberti D, Comi GP, Agliardi C, Scarpini E, Pozzoli U, Forni D, Caputo D, Asselta R, Biasin M, Paraboschi EM, Bresolin N, Clerici M, Sironi M
Hum Genet 2012 Jan;131(1):87-97. Epub 2011 Jul 7 doi: 10.1007/s00439-011-1053-2. [Epub ahead of print] PMID: 21735172

Clinical prediction guides

Mowry EM, Carey RF, Blasco MR, Pelletier J, Duquette P, Villoslada P, Malikova I, Roger E, Kinkel RP, McDonald J, Bacchetti P, Waubant E
PLoS One 2013;8(10):e75565. Epub 2013 Oct 10 doi: 10.1371/journal.pone.0075565. PMID: 24130718Free PMC Article
Sadovnick AD
Clin Immunol 2013 Nov;149(2):170-5. Epub 2013 May 11 doi: 10.1016/j.clim.2013.05.002. [Epub ahead of print] PMID: 23796437
Kalincik T, Guttmann CR, Krasensky J, Vaneckova M, Lelkova P, Tyblova M, Seidl Z, De Jager PL, Havrdova E, Horakova D
Genes Immun 2013 Jun;14(4):244-8. Epub 2013 Apr 11 doi: 10.1038/gene.2013.17. [Epub ahead of print] PMID: 23575354
Mahurkar S, Moldovan M, Suppiah V, O'Doherty C
PLoS One 2013;8(2):e57655. Epub 2013 Feb 28 doi: 10.1371/journal.pone.0057655. PMID: 23469041Free PMC Article
Langkammer C, Liu T, Khalil M, Enzinger C, Jehna M, Fuchs S, Fazekas F, Wang Y, Ropele S
Radiology 2013 May;267(2):551-9. Epub 2013 Jan 11 doi: 10.1148/radiol.12120707. [Epub ahead of print] PMID: 23315661Free PMC Article

Recent systematic reviews

de la Hera B, Varadé J, García-Montojo M, Lamas JR, de la Encarnación A, Arroyo R, Fernández-Gutiérrez B, Alvarez-Lafuente R, Urcelay E
PLoS One 2013;8(4):e62090. Epub 2013 Apr 25 doi: 10.1371/journal.pone.0062090. PMID: 23634223Free PMC Article
O'Gorman C, Lin R, Stankovich J, Broadley SA
Neuroepidemiology 2013;40(1):1-12. Epub 2012 Oct 11 doi: 10.1159/000341902. [Epub ahead of print] PMID: 23075677
Patsopoulos NA; Bayer Pharma MS Genetics Working Group; Steering Committees of Studies Evaluating IFNβ-1b and a CCR1-Antagonist; ANZgene Consortium; GeneMSA; International Multiple Sclerosis Genetics Consortium, Esposito F, Reischl J, Lehr S, Bauer D, Heubach J, Sandbrink R, Pohl C, Edan G, Kappos L, Miller D, Montalbán J, Polman CH, Freedman MS, Hartung HP, Arnason BG, Comi G, Cook S, Filippi M, Goodin DS, Jeffery D, O'Connor P, Ebers GC, Langdon D, Reder AT, Traboulsee A, Zipp F, Schimrigk S, Hillert J, Bahlo M, Booth DR, Broadley S, Brown MA, Browning BL, Browning SR, Butzkueven H, Carroll WM, Chapman C, Foote SJ, Griffiths L, Kermode AG, Kilpatrick TJ, Lechner-Scott J, Marriott M, Mason D, Moscato P, Heard RN, Pender MP, Perreau VM, Perera D, Rubio JP, Scott RJ, Slee M, Stankovich J, Stewart GJ, Taylor BV, Tubridy N, Willoughby E, Wiley J, Matthews P, Boneschi FM, Compston A, Haines J, Hauser SL, McCauley J, Ivinson A, Oksenberg JR, Pericak-Vance M, Sawcer SJ, De Jager PL, Hafler DA, de Bakker PI
Ann Neurol 2011 Dec;70(6):897-912. doi: 10.1002/ana.22609. PMID: 22190364Free PMC Article
Xuan C, Zhang BB, Li M, Deng KF, Yang T, Zhang XE
J Neurol Sci 2011 Sep 15;308(1-2):110-6. Epub 2011 Jun 15 doi: 10.1016/j.jns.2011.05.040. [Epub ahead of print] PMID: 21679970
Zhang Q, Lin CY, Dong Q, Wang J, Wang W
Autoimmun Rev 2011 Jun;10(8):474-81. Epub 2011 Apr 2 doi: 10.1016/j.autrev.2011.03.003. [Epub ahead of print] PMID: 21440682

Supplemental Content

Table of contents

    Consumer resources

    Outreach and support

    Clinical Trials

    Recent activity

    Your browsing activity is temporarily unavailable.