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Amyotrophic lateral sclerosis, susceptibility to, 13(ALS13)

MedGen UID:
461257
Concept ID:
C3149907
Finding
Synonym: Amyotrophic lateral sclerosis 13
 
Monarch Initiative: MONDO:0800224
OMIM®: 183090; 601517

Authors:
Nailah Siddique  |  Teepu Siddique   view full author information

Professional guidelines

PubMed

Nakken O, Sørum L, Holmøy T
Tidsskr Nor Laegeforen 2018 Sep 4;138(13) Epub 2018 Sep 3 doi: 10.4045/tidsskr.18.0193. PMID: 30180501
Perrone F, Cacace R, Van Mossevelde S, Van den Bossche T, De Deyn PP, Cras P, Engelborghs S, van der Zee J, Van Broeckhoven C
Neurobiol Aging 2018 Sep;69:292.e7-292.e14. Epub 2018 May 9 doi: 10.1016/j.neurobiolaging.2018.04.015. PMID: 29859640
Al-Chalabi A, van den Berg LH, Veldink J
Nat Rev Neurol 2017 Feb;13(2):96-104. Epub 2016 Dec 16 doi: 10.1038/nrneurol.2016.182. PMID: 27982040

Curated

Orphanet, Amyotrophic lateral sclerosis, 2007

Recent clinical studies

Etiology

Tian Y, Ma G, Li H, Zeng Y, Zhou S, Wang X, Shan S, Xu Y, Xiong J, Cheng G
Mov Disord 2023 Oct;38(10):1813-1821. Epub 2023 Aug 3 doi: 10.1002/mds.29572. PMID: 37534731
Van Daele SH, Moisse M, van Vugt JJFA, Zwamborn RAJ, van der Spek R, van Rheenen W, Van Eijk K, Kenna K, Corcia P, Vourc'h P, Couratier P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, Ratti A, de Carvalho M, Mora Pardina JS, Povedano M, Andersen PM, Weber M, Başak NA, Shaw C, Shaw PJ, Morrison KE, Landers JE, Glass JD, van Es MA, van den Berg LH, Al-Chalabi A, Veldink J, Van Damme P
Brain 2023 Sep 1;146(9):3760-3769. doi: 10.1093/brain/awad120. PMID: 37043475Free PMC Article
Restuadi R, Steyn FJ, Kabashi E, Ngo ST, Cheng FF, Nabais MF, Thompson MJ, Qi T, Wu Y, Henders AK, Wallace L, Bye CR, Turner BJ, Ziser L, Mathers S, McCombe PA, Needham M, Schultz D, Kiernan MC, van Rheenen W, van den Berg LH, Veldink JH, Ophoff R, Gusev A, Zaitlen N, McRae AF, Henderson RD, Wray NR, Giacomotto J, Garton FC
Genome Med 2022 Jan 19;14(1):7. doi: 10.1186/s13073-021-01006-6. PMID: 35042540Free PMC Article
Liu X, He J, Chen L, Zhang N, Tang L, Liu X, Ma Y, Fan D
Neurobiol Aging 2021 Jan;97:149.e9-149.e15. Epub 2020 Aug 4 doi: 10.1016/j.neurobiolaging.2020.07.028. PMID: 32893041
Al-Chalabi A, van den Berg LH, Veldink J
Nat Rev Neurol 2017 Feb;13(2):96-104. Epub 2016 Dec 16 doi: 10.1038/nrneurol.2016.182. PMID: 27982040

Diagnosis

Van Daele SH, Moisse M, van Vugt JJFA, Zwamborn RAJ, van der Spek R, van Rheenen W, Van Eijk K, Kenna K, Corcia P, Vourc'h P, Couratier P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, Ratti A, de Carvalho M, Mora Pardina JS, Povedano M, Andersen PM, Weber M, Başak NA, Shaw C, Shaw PJ, Morrison KE, Landers JE, Glass JD, van Es MA, van den Berg LH, Al-Chalabi A, Veldink J, Van Damme P
Brain 2023 Sep 1;146(9):3760-3769. doi: 10.1093/brain/awad120. PMID: 37043475Free PMC Article
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E
JAMA Neurol 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. PMID: 34459874Free PMC Article
Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Sakuishi K, Nakamagoe K, Miyake Z, Tamaoka A, Goto J, Yoshimura J, Doi K, Morishita S, Toda T, Tsuji S
Neurogenetics 2021 Mar;22(1):11-17. Epub 2020 Aug 19 doi: 10.1007/s10048-020-00626-1. PMID: 32815063
Al-Chalabi A, van den Berg LH, Veldink J
Nat Rev Neurol 2017 Feb;13(2):96-104. Epub 2016 Dec 16 doi: 10.1038/nrneurol.2016.182. PMID: 27982040
Handel AE, Disanto G, Ramagopalan SV
Expert Rev Neurother 2013 Feb;13(2):215-27. doi: 10.1586/ern.12.165. PMID: 23368808Free PMC Article

Therapy

Tian Y, Ma G, Li H, Zeng Y, Zhou S, Wang X, Shan S, Xu Y, Xiong J, Cheng G
Mov Disord 2023 Oct;38(10):1813-1821. Epub 2023 Aug 3 doi: 10.1002/mds.29572. PMID: 37534731
Restuadi R, Steyn FJ, Kabashi E, Ngo ST, Cheng FF, Nabais MF, Thompson MJ, Qi T, Wu Y, Henders AK, Wallace L, Bye CR, Turner BJ, Ziser L, Mathers S, McCombe PA, Needham M, Schultz D, Kiernan MC, van Rheenen W, van den Berg LH, Veldink JH, Ophoff R, Gusev A, Zaitlen N, McRae AF, Henderson RD, Wray NR, Giacomotto J, Garton FC
Genome Med 2022 Jan 19;14(1):7. doi: 10.1186/s13073-021-01006-6. PMID: 35042540Free PMC Article
Opie-Martin S, Jones A, Iacoangeli A, Al-Khleifat A, Oumar M, Shaw PJ, Shaw CE, Morrison KE, Wootton RE, Davey-Smith G, Pearce N, Al-Chalabi A
Amyotroph Lateral Scler Frontotemporal Degener 2020 May;21(3-4):222-227. Epub 2020 Apr 17 doi: 10.1080/21678421.2019.1706580. PMID: 32301340Free PMC Article
Li M, Wang L, Wang W, Qi XL, Tang ZY
Braz J Med Biol Res 2014 Feb;47(3):215-22. Epub 2014 Feb 18 doi: 10.1590/1414-431X20133296. PMID: 24604426Free PMC Article
Jawaid A, Paganoni S, Hauser C, Schulz PE
Neurodegener Dis 2014;13(4):205-8. Epub 2013 Oct 2 doi: 10.1159/000353158. PMID: 24107404Free PMC Article

Prognosis

Gonzalez Deniselle MC, Bettini M, Garrido RM, Meyer M, Lara A, Garay LI, Casas S, Fulgenzi E, Nuñez M, Rugiero MF, De Nicola AF, Gargiulo-Monachelli G
Muscle Nerve 2023 Oct;68(4):414-421. Epub 2023 Jul 26 doi: 10.1002/mus.27942. PMID: 37493444
Moreno-Gambín MI, Tembl JI, Mazón M, Cañada-Martínez AJ, Martí-Bonmatí L, Sevilla T, Vázquez-Costa JF
J Neurol 2022 Mar;269(3):1631-1640. Epub 2021 Aug 11 doi: 10.1007/s00415-021-10729-w. PMID: 34379200Free PMC Article
Jiang H, Yang B, Wang F, Li K, Zhu Y, Liu B, Ren H, Tian S, Xu Y, Pang A, Yang X
Neuromolecular Med 2021 Jun;23(2):242-246. Epub 2021 Jan 2 doi: 10.1007/s12017-020-08634-y. PMID: 33387304
Goldstein O, Kedmi M, Gana-Weisz M, Twito S, Nefussy B, Vainer B, Fainmesser Y, Abraham A, Nayshool O, Orr-Urtreger A, Drory VE
J Neurol Sci 2019 Jul 15;402:62-68. Epub 2019 May 8 doi: 10.1016/j.jns.2019.05.006. PMID: 31108397
Bede P, Bokde AL, Byrne S, Elamin M, Fagan AJ, Hardiman O
Amyotroph Lateral Scler 2012 Sep;13(5):407-15. Epub 2012 Feb 13 doi: 10.3109/17482968.2011.649760. PMID: 22329869

Clinical prediction guides

Tian Y, Ma G, Li H, Zeng Y, Zhou S, Wang X, Shan S, Xu Y, Xiong J, Cheng G
Mov Disord 2023 Oct;38(10):1813-1821. Epub 2023 Aug 3 doi: 10.1002/mds.29572. PMID: 37534731
Restuadi R, Steyn FJ, Kabashi E, Ngo ST, Cheng FF, Nabais MF, Thompson MJ, Qi T, Wu Y, Henders AK, Wallace L, Bye CR, Turner BJ, Ziser L, Mathers S, McCombe PA, Needham M, Schultz D, Kiernan MC, van Rheenen W, van den Berg LH, Veldink JH, Ophoff R, Gusev A, Zaitlen N, McRae AF, Henderson RD, Wray NR, Giacomotto J, Garton FC
Genome Med 2022 Jan 19;14(1):7. doi: 10.1186/s13073-021-01006-6. PMID: 35042540Free PMC Article
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E
JAMA Neurol 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. PMID: 34459874Free PMC Article
McCauley ME, O'Rourke JG, Yáñez A, Markman JL, Ho R, Wang X, Chen S, Lall D, Jin M, Muhammad AKMG, Bell S, Landeros J, Valencia V, Harms M, Arditi M, Jefferies C, Baloh RH
Nature 2020 Sep;585(7823):96-101. Epub 2020 Aug 19 doi: 10.1038/s41586-020-2625-x. PMID: 32814898Free PMC Article
Al-Chalabi A, van den Berg LH, Veldink J
Nat Rev Neurol 2017 Feb;13(2):96-104. Epub 2016 Dec 16 doi: 10.1038/nrneurol.2016.182. PMID: 27982040

Recent systematic reviews

Silva-Moraes MH, Bispo-Torres AC, Barouh JL, Lucena PH, Armani-Franceschi G, Dorea-Bandeira I, Vieira F, Miranda-Scippa Â, Quarantini LC, Lucena R, Bandeira ID
J Affect Disord 2020 Dec 1;277:688-696. Epub 2020 Sep 1 doi: 10.1016/j.jad.2020.08.066. PMID: 32911219
Zhou SL, Tan CC, Hou XH, Cao XP, Tan L, Yu JT
J Alzheimers Dis 2019;68(3):1171-1184. doi: 10.3233/JAD-181038. PMID: 30883352
Wei Q, Chen X, Chen Y, Ou R, Cao B, Hou Y, Zhang L, Shang HF
Sci China Life Sci 2019 Apr;62(4):517-525. Epub 2019 Mar 7 doi: 10.1007/s11427-018-9453-x. PMID: 30863961
Wang MD, Gomes J, Cashman NR, Little J, Krewski D
PLoS One 2014;9(8):e105534. Epub 2014 Aug 22 doi: 10.1371/journal.pone.0105534. PMID: 25148523Free PMC Article
Bede P, Bokde AL, Byrne S, Elamin M, Fagan AJ, Hardiman O
Amyotroph Lateral Scler 2012 Sep;13(5):407-15. Epub 2012 Feb 13 doi: 10.3109/17482968.2011.649760. PMID: 22329869

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