An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2.

Dec 19, 2025

Demaegd KC, Kernan A, Cooper-Knock J, van Vugt JJFA, Harvey C, Moll T, O’Brien D, Gornall S, Drury L, Farhan SMK, Dion PA, Rouleau GA, Western A, Parsons PJ, Mclean B, Benatar M, van den Berg LH, Van Damme P, Willem Dankbaar J, Hendrikse J, Koole W, de Bie C, Hobson E, Veldink JH, van de Warrenburg B, Pasterkamp RJ, van Rheenen W, Kirby J, Shaw PJ, van Es MA. An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2. Eur J Hum Genet. 2025 Sep;33(9):1106-1112. Epub 2025 Feb 16. [PubMed link]