Journal Article

DZNE-2022-01717

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.

Opie-Martin, S. ; Iacoangeli, A. ; Topp, S. D. ; Abel, O. ; Mayl, K. ; Mehta, P. R. ; Shatunov, A. ; Fogh, I. ; Bowles, H. ; Limbachiya, N. ; Spargo, T. P. ; Al-Khleifat, A. ; Williams, K. L. ; Jockel-Balsarotti, J. ; Bali, T. ; Self, W. ; Henden, L. ; Nicholson, G. A. ; Ticozzi, N. ; McKenna-Yasek, D. ; Tang, L. ; Shaw, P. J. ; Chio, A. ; Ludolph, A.DZNE* ; Weishaupt, J. H.Extern* ; Landers, J. E. ; Glass, J. D. ; Mora, J. S. ; Robberecht, W. ; Damme, P. V. ; McLaughlin, R. ; Hardiman, O. ; van den Berg, L. ; Veldink, J. H. ; Corcia, P. ; Stevic, Z. ; Siddique, N. ; Silani, V. ; Blair, I. P. ; Fan, D.-S. ; Esselin, F. ; de la Cruz, E. ; Camu, W. ; Basak, N. A. ; Siddique, T. ; Miller, T. ; Brown, R. H. ; Al-Chalabi, A. ; Shaw, C. E.

2022
Nature Publishing Group UK [London]

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Please use a persistent id in citations: doi:10.1038/s41467-022-34620-y

Abstract: Superoxide 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.

Keyword(s): Humans (MeSH) ; Superoxide Dismutase-1: genetics (MeSH) ; Amyotrophic Lateral Sclerosis: genetics (MeSH) ; Amyotrophic Lateral Sclerosis: epidemiology (MeSH) ; Superoxide Dismutase: genetics (MeSH) ; Phenotype (MeSH) ; Mutation (MeSH) ; Superoxide Dismutase-1 ; Superoxide Dismutase ; SOD1 protein, human

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Contributing Institute(s):

1. Clinical Study Center Ulm (Clinical Study Center Ulm)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2022

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Linked articles:

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Erratum/Correction) Opie-Martin, S. ; Iacoangeli, A. ; Topp, S. D. ; Abel, O. ; Mayl, K. ; Mehta, P. R. ; Shatunov, A. ; Fogh, I. ; Bowles, H. ; Limbachiya, N. ; Spargo, T. P. ; Al-Khleifat, A. ; Williams, K. L. ; Jockel-Balsarotti, J. ; Bali, T. ; Self, W. ; Henden, L. ; Nicholson, G. A. ; Ticozzi, N. ; McKenna-Yasek, D. ; Tang, L. ; Shaw, P. J. ; Chio, A. ; Ludolph, A.DZNE* ; Weishaupt, J. H. ; Landers, J. E. ; Glass, J. D. ; Mora, J. S. ; Robberecht, W. ; Damme, P. V. ; McLaughlin, R. ; Hardiman, O. ; van den Berg, L. ; Veldink, J. H. ; Corcia, P. ; Stevic, Z. ; Siddique, N. ; Silani, V. ; Blair, I. P. ; Fan, D.-S. ; Esselin, F. ; de la Cruz, E. ; Camu, W. ; Basak, N. A. ; Siddique, T. ; Miller, T. ; Brown, R. H. ; Al-Chalabi, A. ; Shaw, C. E.
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Nature Communications 15(1), 5560 (2024) [10.1038/s41467-024-49938-y]2024   Files  Fulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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