#sca2

@ejhg-journal.bsky.social

6 months ago

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...