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dc.contributor.authorOpie-Martin, Sarah
dc.contributor.authorIacoangeli, Alfredo
dc.contributor.authorTopp, Simon D
dc.contributor.authorAbel, Olubunmi
dc.contributor.authorMayl, Keith
dc.contributor.authorMehta, Puja R
dc.contributor.authorShatunov, Aleksey
dc.contributor.authorFogh, Isabella
dc.contributor.authorBowles, Harry
dc.contributor.authorLimbachiya, Naomi
dc.contributor.authorSpargo, Thomas P
dc.contributor.authorAl-Khleifat, Ahmad
dc.contributor.authorWilliams, Kelly L
dc.contributor.authorJockel-Balsarotti, Jennifer
dc.contributor.authorBali, Taha
dc.contributor.authorSelf, Wade
dc.contributor.authorHenden, Lyndal
dc.contributor.authorNicholson, Garth A
dc.contributor.authorTicozzi, Nicola
dc.contributor.authorMcKenna-Yasek, Diane
dc.contributor.authorTang, Lu
dc.contributor.authorShaw, Pamela J
dc.contributor.authorChio, Adriano
dc.contributor.authorLudolph, Albert
dc.contributor.authorWeishaupt, Jochen H
dc.contributor.authorLanders, John E
dc.contributor.authorGlass, Jonathan D
dc.contributor.authorMora, Jesus S
dc.contributor.authorRobberecht, Wim
dc.contributor.authorDamme, Philip Van
dc.contributor.authorMcLaughlin, Russell
dc.contributor.authorHardiman, Orla
dc.contributor.authorvan den Berg, Leonard
dc.contributor.authorVeldink, Jan H
dc.contributor.authorCorcia, Phillippe
dc.contributor.authorStevic, Zorica
dc.contributor.authorSiddique, Nailah
dc.contributor.authorSilani, Vincenzo
dc.contributor.authorBlair, Ian P
dc.contributor.authorFan, Dong-sheng
dc.contributor.authorEsselin, Florence
dc.contributor.authorde la Cruz, Elisa
dc.contributor.authorCamu, William
dc.contributor.authorBasak, Nazli A
dc.contributor.authorSiddique, Teepu
dc.contributor.authorMiller, Timothy
dc.contributor.authorBrown, Robert H
dc.contributor.authorAl-Chalabi, Ammar
dc.contributor.authorShaw, Christopher E
dc.date.accessioned2024-03-27T19:21:23Z
dc.date.available2024-03-27T19:21:23Z
dc.date.issued2022-11-12
dc.identifier.citationOpie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. PMID: 36371497; PMCID: PMC9653399.en_US
dc.identifier.eissn2041-1723
dc.identifier.doi10.1038/s41467-022-34620-yen_US
dc.identifier.pmid36371497
dc.identifier.urihttp://hdl.handle.net/20.500.14038/53237
dc.description.abstractSuperoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes. In this international, retrospective observational study, we compare phenotypic and demographic characteristics between people with SOD1-ALS and people with ALS and no recorded SOD1 variant. We investigate which variants are associated with age at symptom onset and time from onset to death or censoring using Cox proportional-hazards regression. The SOD1-ALS dataset reports age of onset for 1122 and disease duration for 883 people; the comparator population includes 10,214 and 9010 people respectively. Eight variants are associated with younger age of onset and distinct survival trajectories; a further eight associated with younger onset only and one with distinct survival only. Here we show that onset and survival are decoupled in SOD1-ALS. Future research should characterise rarer variants and molecular mechanisms causing the observed variability.en_US
dc.language.isoenen_US
dc.relation.ispartofNature Communicationsen_US
dc.relation.urlhttps://doi.org/10.1038/s41467-022-34620-yen_US
dc.rightsOpen Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/ licenses/by/4.0/. © The Author(s) 2022en_US
dc.rightsAttribution 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectMedical geneticsen_US
dc.titleThe SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease durationen_US
dc.typeJournal Articleen_US
dc.source.journaltitleNature communications
dc.source.volume13
dc.source.issue1
dc.source.beginpage6901
dc.source.endpage
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited Kingdom
dc.source.countryUnited Kingdom
dc.source.countryUnited Kingdom
dc.source.countryEngland
dc.identifier.journalNature communications
refterms.dateFOA2024-03-27T19:21:24Z
dc.contributor.departmentNeurologyen_US


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Open Access: This article is licensed under a Creative Commons
Attribution 4.0 International License, which permits use, sharing,
adaptation, distribution and reproduction in any medium or format, as
long as you give appropriate credit to the original author(s) and the
source, provide a link to the Creative Commons license, and indicate if
changes were made. The images or other third party material in this
article are included in the article’s Creative Commons license, unless
indicated otherwise in a credit line to the material. If material is not
included in the article’s Creative Commons license and your intended
use is not permitted by statutory regulation or exceeds the permitted
use, you will need to obtain permission directly from the copyright
holder. To view a copy of this license, visit http://creativecommons.org/
licenses/by/4.0/.
© The Author(s) 2022
Except where otherwise noted, this item's license is described as Open Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/ licenses/by/4.0/. © The Author(s) 2022