An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2 - European Journal of Human Genetics European Journal of Human Genetics - An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2

📢 #ATXN2 CAG-repeat expansions, whether intermediate or full, are a risk for ALS. Their pleiotropy covers #ALS, #SCA2, #Parkinsonism & dementia, unified as ATXN2-related neurodegeneration. 🧠🧬
#Genetics #Neurodegeneration #ejhg

www.nature.com/articles/s41...

Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis - European Journal of Human Genetics European Journal of Human Genetics - Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis

Thoughts and reflections from Andrew Douglas on the complexity of #ATXN2 in #ALS in a commentary on a recent article about penetrance and pleiotropy in ATXN2-related ALS

www.nature.com/articles/s41431-025-01882-1