Article
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Nature communications - 12 Nov 2022
Opie-Martin Sarah, Iacoangeli Alfredo, Topp Simon D, Abel Olubunmi, Mayl Keith, Mehta Puja R, Shatunov Aleksey, Fogh Isabella, Bowles Harry, Limbachiya Naomi, Spargo Thomas P, Al-Khleifat Ahmad, Williams Kelly L, Jockel-Balsarotti Jennifer, Bali Taha, Self Wade, Henden Lyndal, Nicholson Garth A, Ticozzi Nicola, McKenna-Yasek Diane, Tang Lu, Shaw Pamela J, Chio Adriano, Ludolph Albert, Weishaupt Jochen H, Landers John E, Glass Jonathan D, Mora Jesus S, Robberecht Wim, Damme Philip Van, McLaughlin Russell, Hardiman Orla, van den Berg Leonard, Veldink Jan H, Corcia Phillippe, Stevic Zorica, Siddique Nailah, Silani Vincenzo, Blair Ian P, Fan Dong-Sheng, Esselin Florence, de la Cruz Elisa, Camu William, Basak Nazli A, Siddique Teepu, Miller Timothy, Brown Robert H, Al-Chalabi Ammar, Shaw Christopher E
Abstract excerpt
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...
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