학술논문
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Document Type
article
Author
Sarah Opie-Martin; Alfredo Iacoangeli; Simon D. Topp; Olubunmi Abel; Keith Mayl; Puja R. Mehta; Aleksey Shatunov; Isabella Fogh; Harry Bowles; Naomi Limbachiya; Thomas P. Spargo; Ahmad Al-Khleifat; Kelly L. Williams; Jennifer Jockel-Balsarotti; Taha Bali; Wade Self; Lyndal Henden; Garth A. Nicholson; Nicola Ticozzi; Diane McKenna-Yasek; Lu Tang; Pamela J. Shaw; Adriano Chio; Albert Ludolph; Jochen H. Weishaupt; John E. Landers; Jonathan D. Glass; Jesus S. Mora; Wim Robberecht; Philip Van Damme; Russell McLaughlin; Orla Hardiman; Leonard van den Berg; Jan H. Veldink; Phillippe Corcia; Zorica Stevic; Nailah Siddique; Vincenzo Silani; Ian P. Blair; Dong-sheng Fan; Florence Esselin; Elisa de la Cruz; William Camu; Nazli A. Basak; Teepu Siddique; Timothy Miller; Robert H. Brown; Ammar Al-Chalabi; Christopher E. Shaw
Source
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Subject
Language
English
ISSN
2041-1723
Abstract
Analysis of age of onset and disease duration in a large, international cohort of people with SOD1-ALS shows that there is a distinct phenotype and that onset and progression are decoupled.