Article
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2.
European journal of human genetics : EJHG - 1 Sept 2025
Demaegd Koen C, Kernan Aoife, Cooper-Knock Johnathan, van Vugt Joke J F A, Harvey Calum, Moll Tobias, O'Brien David, Gornall Sarah, Drury Luke, Farhan Sali M K, Dion Patrick A, Rouleau Guy A, Western Andrea, Parsons Paul J, Mclean Benjamin, Benatar Michael, van den Berg Leonard H, Van Damme Philip, Willem Dankbaar Jan, Hendrikse Jeroen, Koole Wouter, de Bie Charlotte, Hobson Esther, Veldink Jan H, van de Warrenburg Bart, Pasterkamp R Jeroen, van Rheenen Wouter, Kirby Janine, Shaw Pamela J, van Es Michael A
Abstract excerpt
Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) are both associated with a CAG-repeat expansion in ATXN2 and with TDP-43-positive neuronal cytoplasmic inclusions. The two disorders have been viewed as distinct entities, where an intermediate length expansion of 31-33 CAG-repeats is associated with sporadic ALS and a full length expansion of ≥34 CAG-repeats is associated with SCA2. We...
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